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Mendeliome v0.8014 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Mendeliome v0.8014 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Mendeliome v0.8014 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Mendeliome v0.8013 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Mendeliome v0.8012 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8011 ADA2 Zornitza Stark commented on gene: ADA2: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency. At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.
Mendeliome v0.8011 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.223 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Bone Marrow Failure v0.223 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.223 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Bone Marrow Failure v0.222 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Bone Marrow Failure v0.221 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.220 ADA2 Zornitza Stark Tag founder tag was added to gene: ADA2.
Bone Marrow Failure v0.220 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.68 NF2 Zornitza Stark Tag SV/CNV tag was added to gene: NF2.
Intellectual disability syndromic and non-syndromic v0.3876 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3876 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3875 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 32144365; 33531668
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome
Review for gene: IFT74 was set to GREEN
Added comment: Two individuals reported with BBS phenotype.

PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Sources: Literature
Ciliopathies v0.283 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome
Ciliopathies v0.282 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Mendeliome v0.8011 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome
Mendeliome v0.8010 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776; 32144365
Mendeliome v0.8009 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.; Changed publications: 27486776, 32144365, 33531668; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Mendeliome v0.8009 RFX4 Zornitza Stark Marked gene: RFX4 as ready
Mendeliome v0.8009 RFX4 Zornitza Stark Gene: rfx4 has been classified as Green List (High Evidence).
Mendeliome v0.8009 RFX4 Zornitza Stark Classified gene: RFX4 as Green List (high evidence)
Mendeliome v0.8009 RFX4 Zornitza Stark Gene: rfx4 has been classified as Green List (High Evidence).
Mendeliome v0.8008 RFX4 Zornitza Stark gene: RFX4 was added
gene: RFX4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX4 were set to 33658631
Phenotypes for gene: RFX4 were set to ID, ASD, ADHD
Review for gene: RFX4 was set to GREEN
Added comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3874 RFX4 Zornitza Stark Marked gene: RFX4 as ready
Intellectual disability syndromic and non-syndromic v0.3874 RFX4 Zornitza Stark Gene: rfx4 has been classified as Green List (High Evidence).
Mendeliome v0.8007 RFX3 Zornitza Stark Marked gene: RFX3 as ready
Mendeliome v0.8007 RFX3 Zornitza Stark Gene: rfx3 has been classified as Green List (High Evidence).
Mendeliome v0.8007 RFX3 Zornitza Stark Classified gene: RFX3 as Green List (high evidence)
Mendeliome v0.8007 RFX3 Zornitza Stark Gene: rfx3 has been classified as Green List (High Evidence).
Mendeliome v0.8006 RFX3 Zornitza Stark gene: RFX3 was added
gene: RFX3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RFX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX3 were set to 33658631
Phenotypes for gene: RFX3 were set to ID, ASD, ADHD
Review for gene: RFX3 was set to GREEN
Added comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3874 RFX3 Zornitza Stark Marked gene: RFX3 as ready
Intellectual disability syndromic and non-syndromic v0.3874 RFX3 Zornitza Stark Gene: rfx3 has been classified as Green List (High Evidence).
Mendeliome v0.8005 RFX7 Zornitza Stark Marked gene: RFX7 as ready
Mendeliome v0.8005 RFX7 Zornitza Stark Gene: rfx7 has been classified as Green List (High Evidence).
Mendeliome v0.8005 RFX7 Zornitza Stark Classified gene: RFX7 as Green List (high evidence)
Mendeliome v0.8005 RFX7 Zornitza Stark Gene: rfx7 has been classified as Green List (High Evidence).
Mendeliome v0.8004 RFX7 Zornitza Stark gene: RFX7 was added
gene: RFX7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RFX7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX7 were set to 33658631
Phenotypes for gene: RFX7 were set to ID, ASD, ADHD
Review for gene: RFX7 was set to GREEN
Added comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3874 RFX7 Zornitza Stark Marked gene: RFX7 as ready
Intellectual disability syndromic and non-syndromic v0.3874 RFX7 Zornitza Stark Gene: rfx7 has been classified as Green List (High Evidence).
Mendeliome v0.8003 SEMA3F Zornitza Stark Marked gene: SEMA3F as ready
Mendeliome v0.8003 SEMA3F Zornitza Stark Gene: sema3f has been classified as Green List (High Evidence).
Mendeliome v0.8003 SEMA3F Zornitza Stark Classified gene: SEMA3F as Green List (high evidence)
Mendeliome v0.8003 SEMA3F Zornitza Stark Gene: sema3f has been classified as Green List (High Evidence).
Mendeliome v0.8002 SEMA3F Zornitza Stark gene: SEMA3F was added
gene: SEMA3F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA3F were set to 33495532
Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism
Review for gene: SEMA3F was set to GREEN
Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates.
Sources: Literature
Differences of Sex Development v0.208 SEMA3F Zornitza Stark Marked gene: SEMA3F as ready
Differences of Sex Development v0.208 SEMA3F Zornitza Stark Gene: sema3f has been classified as Green List (High Evidence).
Mendeliome v0.8001 PLXNA3 Zornitza Stark Marked gene: PLXNA3 as ready
Mendeliome v0.8001 PLXNA3 Zornitza Stark Gene: plxna3 has been classified as Green List (High Evidence).
Mendeliome v0.8001 PLXNA3 Zornitza Stark Classified gene: PLXNA3 as Green List (high evidence)
Mendeliome v0.8001 PLXNA3 Zornitza Stark Gene: plxna3 has been classified as Green List (High Evidence).
Mendeliome v0.8000 PLXNA3 Zornitza Stark gene: PLXNA3 was added
gene: PLXNA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLXNA3 were set to 33495532
Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism
Review for gene: PLXNA3 was set to GREEN
Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants. In 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3.
Sources: Literature
Differences of Sex Development v0.208 PLXNA3 Zornitza Stark Marked gene: PLXNA3 as ready
Differences of Sex Development v0.208 PLXNA3 Zornitza Stark Gene: plxna3 has been classified as Green List (High Evidence).
Mendeliome v0.7999 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from Intellectual disability; Marfanoid habitus to Intellectual developmental disorder 62, MIM# 618793
Mendeliome v0.7998 DLG4 Zornitza Stark Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719
Mendeliome v0.7997 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: PMID 33597769: 53 patients (42 previously unpublished) with DLG4 variants. The clinical picture predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder.; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719, 33597769; Changed phenotypes: Intellectual developmental disorder 62, MIM# 618793
Mendeliome v0.7997 GNAI1 Zornitza Stark Marked gene: GNAI1 as ready
Mendeliome v0.7997 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence).
Incidentalome v0.68 NF2 Elena Savva reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29409008; Phenotypes: Neurofibromatosis, type 2, MIM#101000, Meningioma, NF2-related, somatic, MIM#607174, Schwannomatosis, somatic, MIM#162091; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3874 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder 62 618793 to Intellectual developmental disorder 62, MIM# 618793
Intellectual disability syndromic and non-syndromic v0.3873 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from Intellectual disability; Marfanoid habitus to Intellectual developmental disorder 62 618793
Intellectual disability syndromic and non-syndromic v0.3872 DLG4 Zornitza Stark Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719
Genetic Epilepsy v0.1117 GNAI1 Zornitza Stark Marked gene: GNAI1 as ready
Genetic Epilepsy v0.1117 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1117 GNAI1 Zornitza Stark Classified gene: GNAI1 as Green List (high evidence)
Genetic Epilepsy v0.1117 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1116 GNAI1 Zornitza Stark gene: GNAI1 was added
gene: GNAI1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI1 were set to 28135719; 33473207
Phenotypes for gene: GNAI1 were set to Intellectual disability; seizures; hypotonia
Review for gene: GNAI1 was set to GREEN
Added comment: Over 30 individuals reported, most had a severe neurodevelopmental disorder with global developmental delay, intellectual disability, hypotonia, and epilepsy.
Sources: Literature
Mendeliome v0.7997 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from to Intellectual disability; seizures; hypotonia
Mendeliome v0.7996 GNAI1 Zornitza Stark Publications for gene: GNAI1 were set to
Mendeliome v0.7995 GNAI1 Zornitza Stark Mode of inheritance for gene: GNAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7994 GNAI1 Zornitza Stark reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 33473207; Phenotypes: Intellectual disability, seizures, hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3871 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Intellectual disability; seizures; hypotonia
Intellectual disability syndromic and non-syndromic v0.3870 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from Intellectual disability to Intellectual disability; seizures; hypotonia
Intellectual disability syndromic and non-syndromic v0.3869 GNAI1 Zornitza Stark Publications for gene: GNAI1 were set to 28135719
Intellectual disability syndromic and non-syndromic v0.3868 FARSA Zornitza Stark Marked gene: FARSA as ready
Intellectual disability syndromic and non-syndromic v0.3868 FARSA Zornitza Stark Gene: farsa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.25 FARSA Zornitza Stark Publications for gene: FARSA were set to 31355908
Mendeliome v0.7994 SURF1 Elena Savva reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027061; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.7994 FARSA Zornitza Stark Classified gene: FARSA as Green List (high evidence)
Mendeliome v0.7994 FARSA Zornitza Stark Gene: farsa has been classified as Green List (High Evidence).
Mendeliome v0.7993 FARSA Zornitza Stark edited their review of gene: FARSA: Added comment: Schuch et al. (2021) report 3 unrelated individuals with bi-allelic variants in FARSA. Identified through WES and variants segregated with disease. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction.; Changed rating: GREEN; Changed publications: 31355908, 33598926; Changed phenotypes: Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Brain Calcification v1.7 FARSA Zornitza Stark Publications for gene: FARSA were set to 31355908
Proteinuria v0.168 LAMA5 Zornitza Stark Publications for gene: LAMA5 were set to 29534211
Ciliopathies v0.281 IFT74 Chirag Patel reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33531668; Phenotypes: Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Chirag Patel Classified gene: IFT74 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.5 IFT74 Chirag Patel Gene: ift74 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.4 IFT74 Chirag Patel gene: IFT74 was added
gene: IFT74 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to PMID: 33531668
Phenotypes for gene: IFT74 were set to Joubert syndrome
Review for gene: IFT74 was set to GREEN
Added comment: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3868 RFX7 Chirag Patel Classified gene: RFX7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3868 RFX7 Chirag Patel Gene: rfx7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3868 RFX7 Chirag Patel Classified gene: RFX7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3868 RFX7 Chirag Patel Gene: rfx7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3868 RFX7 Chirag Patel Classified gene: RFX7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3868 RFX7 Chirag Patel Gene: rfx7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3867 RFX7 Chirag Patel Classified gene: RFX7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3867 RFX7 Chirag Patel Gene: rfx7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3867 RFX7 Chirag Patel Classified gene: RFX7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3867 RFX7 Chirag Patel Gene: rfx7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3867 RFX7 Chirag Patel Classified gene: RFX7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3867 RFX7 Chirag Patel Gene: rfx7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Classified gene: RFX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Gene: rfx4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Classified gene: RFX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Gene: rfx4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Classified gene: RFX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Gene: rfx4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Classified gene: RFX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Gene: rfx4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Classified gene: RFX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3866 RFX4 Chirag Patel Gene: rfx4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3865 RFX3 Chirag Patel Classified gene: RFX3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3865 RFX3 Chirag Patel Gene: rfx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3864 RFX4 Chirag Patel gene: RFX4 was added
gene: RFX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX4 were set to PMID: 33658631
Phenotypes for gene: RFX4 were set to ID, ASD, ADHD
Review for gene: RFX4 was set to GREEN
Added comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3864 RFX3 Chirag Patel gene: RFX3 was added
gene: RFX3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RFX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX3 were set to PMID: 33658631
Phenotypes for gene: RFX3 were set to ID, ASD, ADHD
Review for gene: RFX3 was set to GREEN
Added comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3864 RFX7 Chirag Patel gene: RFX7 was added
gene: RFX7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RFX7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX7 were set to PMID: 33658631
Phenotypes for gene: RFX7 were set to ID, ASD, ADHD
Review for gene: RFX7 was set to GREEN
Added comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Differences of Sex Development v0.208 PLXNA3 Chirag Patel Classified gene: PLXNA3 as Green List (high evidence)
Differences of Sex Development v0.208 PLXNA3 Chirag Patel Gene: plxna3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.208 SEMA3F Chirag Patel Classified gene: SEMA3F as Green List (high evidence)
Differences of Sex Development v0.208 SEMA3F Chirag Patel Gene: sema3f has been classified as Green List (High Evidence).
Differences of Sex Development v0.207 SEMA3F Chirag Patel gene: SEMA3F was added
gene: SEMA3F was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA3F were set to PMID: 33495532
Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism
Review for gene: SEMA3F was set to GREEN
Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates.
Sources: Literature
Differences of Sex Development v0.207 PLXNA3 Chirag Patel gene: PLXNA3 was added
gene: PLXNA3 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLXNA3 were set to PMID: 33495532
Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism
Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants.
In 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3863 DLG4 Chirag Patel reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33597769; Phenotypes: Intellectual developmental disorder 62; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3863 GNAI1 Chirag Patel reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33473207; Phenotypes: Developmental delay, seizures, and hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3863 FARSA Chirag Patel Classified gene: FARSA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3863 FARSA Chirag Patel Gene: farsa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3863 FARSA Chirag Patel Classified gene: FARSA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3863 FARSA Chirag Patel Gene: farsa has been classified as Green List (High Evidence).
Mendeliome v0.7993 LAMA5 Bryony Thompson Phenotypes for gene: LAMA5 were changed from to bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay
Intellectual disability syndromic and non-syndromic v0.3862 FARSA Chirag Patel gene: FARSA was added
gene: FARSA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSA were set to PMID: 33598926
Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2
Review for gene: FARSA was set to GREEN
gene: FARSA was marked as current diagnostic
Added comment: FARSA is a subunit with FARSB to form FARS1 enzyme. Bi-allelic mutations in FARSB are well described.
Schuch et al. (2021) report 3 unrelated individuals with bi-allelic variants in FARSA. Identified through WES and variants segregated with disease. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.24 FARSA Chirag Patel Classified gene: FARSA as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.24 FARSA Chirag Patel Gene: farsa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 FARSA Chirag Patel reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33598926; Phenotypes: Rajab interstitial lung disease with brain calcifications 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brain Calcification v1.6 FARSA Chirag Patel Classified gene: FARSA as Green List (high evidence)
Brain Calcification v1.6 FARSA Chirag Patel Gene: farsa has been classified as Green List (High Evidence).
Mendeliome v0.7992 LAMA5 Bryony Thompson Publications for gene: LAMA5 were set to
Brain Calcification v1.5 FARSA Chirag Patel reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33598926; Phenotypes: Rajab interstitial lung disease with brain calcifications 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.7991 LAMA5 Bryony Thompson Mode of inheritance for gene: LAMA5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7990 LAMA5 Bryony Thompson reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242826, 29534211, 16790509, 30589377, 28735299, 30631761; Phenotypes: bent bone dysplasia, nephrotic syndrome, Presynaptic congenital myasthenic syndrome, multisystem syndrome, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Proteinuria v0.167 LAMA5 Bryony Thompson edited their review of gene: LAMA5: Changed publications: 29534211, 16790509, 29764427, 30808327, 24130771
Proteinuria v0.167 LAMA5 Bryony Thompson changed review comment from: Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants. A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.; to: PMID: 29534211 - Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants.
PMID: 16790509 - A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.
PMID: 24130771 - a single case focal segmental glomerulosclerosis (proteinuria) with biallelic missense variants (VUS - S1469A & V2440I). Also reports p.Gly3685Arg in 2 other cases, which has 11 homozygotes in gnomAD v2.1
PMID: 29764427, 30808327 - Four families with haematuria and proteinuria reported with digenic inheritance of a LAMA5 missense variant with a COL4A4/5 variant. One of those variants (p.His1717Tyr) has 892 homozygotes in gnomAD v2.1
Proteinuria v0.167 LAMA5 Bryony Thompson edited their review of gene: LAMA5: Changed publications: 29534211, 16790509, 29764427, 30808327; Changed phenotypes: Nephrotic syndrome, Alport syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.167 LAMA5 Bryony Thompson reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29534211, 16790509; Phenotypes: Nephrotic syndrome; Mode of inheritance: None
Skeletal dysplasia v0.104 LAMA5 Bryony Thompson Marked gene: LAMA5 as ready
Skeletal dysplasia v0.104 LAMA5 Bryony Thompson Gene: lama5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.104 LAMA5 Bryony Thompson gene: LAMA5 was added
gene: LAMA5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 33242826
Phenotypes for gene: LAMA5 were set to Bent bone dysplasia
Review for gene: LAMA5 was set to RED
Added comment: A single family with 3 affected siblings with biallelic variants, and some supporting in vitro functional assays.
Sources: Literature
Mendeliome v0.7990 ZNF81 Zornitza Stark Marked gene: ZNF81 as ready
Mendeliome v0.7990 ZNF81 Zornitza Stark Gene: znf81 has been classified as Red List (Low Evidence).
Mendeliome v0.7990 ZNF81 Zornitza Stark Phenotypes for gene: ZNF81 were changed from to Intellectual disability
Mendeliome v0.7989 ZNF81 Zornitza Stark Publications for gene: ZNF81 were set to
Mendeliome v0.7988 ZNF81 Zornitza Stark Mode of inheritance for gene: ZNF81 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7987 ZNF81 Zornitza Stark Classified gene: ZNF81 as Red List (low evidence)
Mendeliome v0.7987 ZNF81 Zornitza Stark Gene: znf81 has been classified as Red List (Low Evidence).
Mendeliome v0.7986 ZNF81 Zornitza Stark reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 15121780; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3861 ZNF81 Zornitza Stark Marked gene: ZNF81 as ready
Intellectual disability syndromic and non-syndromic v0.3861 ZNF81 Zornitza Stark Gene: znf81 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3861 ZNF81 Zornitza Stark Tag disputed tag was added to gene: ZNF81.
Intellectual disability syndromic and non-syndromic v0.3861 ZNF81 Zornitza Stark Phenotypes for gene: ZNF81 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3860 ZNF81 Zornitza Stark Publications for gene: ZNF81 were set to
Intellectual disability syndromic and non-syndromic v0.3859 ZNF81 Zornitza Stark Mode of inheritance for gene: ZNF81 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3858 ZNF81 Zornitza Stark Classified gene: ZNF81 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3858 ZNF81 Zornitza Stark Gene: znf81 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3857 ZNF81 Zornitza Stark reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 15121780; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7986 RELN Ee Ming Wong edited their review of gene: RELN: Added comment: - Six affected individuals carrying missense variants in RELN including
1. Two individuals with compound heterozygous variants
- One of the variants has 26 homozygotes in gnomAD and therefore pathogenicity of this variant is in question
- LoF demonstrated for three of the variants (reduced RELN secretion), except for p.Y1821H which demonstrated an apparently increased RELN secretion (GoF)
2. Two brothers carrying the maternally inherited variant (mother apparently healthy)
- LoF demonstrated for these variants
3. Two individuals de novo for RELN variants
- Dominant negative demonstrated for these variants where secretion of WT-RELN was impaired when co-transfected with mutant constructs in HEK293T cells; Changed rating: AMBER; Changed publications: Riva et al bioRxiv (pre-print, not peer-reviewed); Changed phenotypes: Pachygyria, Polymicrogyria, Heterotopia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.114 NIID Bryony Thompson Marked STR: NIID as ready
Hereditary Neuropathy v0.114 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.107 NIID Bryony Thompson Marked STR: NIID as ready
Early-onset Parkinson disease v0.107 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Early-onset Dementia v0.136 NIID Bryony Thompson Marked STR: NIID as ready
Early-onset Dementia v0.136 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.123 NIID Bryony Thompson Marked STR: NIID as ready
Motor Neurone Disease v0.123 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.123 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Motor Neurone Disease v0.123 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.107 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Early-onset Parkinson disease v0.107 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Early-onset Dementia v0.136 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Early-onset Dementia v0.136 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.122 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Motor Neurone Disease v0.122 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.114 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Hereditary Neuropathy v0.114 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Motor Neurone Disease v0.121 NIID Bryony Thompson edited their review of STR: NIID: Changed rating: GREEN
Early-onset Parkinson disease v0.106 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Hereditary Neuropathy v0.113 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Early-onset Dementia v0.135 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Motor Neurone Disease v0.121 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Regression v0.341 NIID Bryony Thompson Marked STR: NIID as ready
Regression v0.341 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Regression v0.341 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Regression v0.341 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Regression v0.340 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Regression. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)]
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Regression v0.339 NOTCH2NL Bryony Thompson Classified gene: NOTCH2NL as No list
Regression v0.339 NOTCH2NL Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of disease in this gene. It has been added as an STR under NIID.
Regression v0.339 NOTCH2NL Bryony Thompson Gene: notch2nl has been removed from the panel.
Mendeliome v0.7986 NIID Bryony Thompson Marked STR: NIID as ready
Mendeliome v0.7986 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Mendeliome v0.7986 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Mendeliome v0.7986 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Mendeliome v0.7985 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Mendeliome. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)]
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.
Normal repeat range: 7-60
Pathogenic repeat range: >=61-500
Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Mendeliome v0.7984 NOTCH2NL Bryony Thompson Classified gene: NOTCH2NL as No list
Mendeliome v0.7984 NOTCH2NL Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of disease for this gene. It has been added as an STR under NIID.
Mendeliome v0.7984 NOTCH2NL Bryony Thompson Gene: notch2nl has been removed from the panel.
Mendeliome v0.7983 TRPM6 Zornitza Stark Marked gene: TRPM6 as ready
Mendeliome v0.7983 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Mendeliome v0.7983 TRPM6 Zornitza Stark Phenotypes for gene: TRPM6 were changed from to Hypomagnesaemia 1, intestinal (MIM#602014)
Mendeliome v0.7982 TRPM6 Zornitza Stark Mode of inheritance for gene: TRPM6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 Zornitza Stark promoted panel to version 1.0
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark edited their review of gene: DNM2: Changed rating: RED; Changed phenotypes: Lethal congenital contracture syndrome 5, MIM# 615368
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: DNM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNM2 were set to 23092955
Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, MIM# 615368
Review for gene: DNM2 was set to AMBER
Added comment: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.68 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIP5K1C were set to 17701898
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, MIM# 611369
Review for gene: PIP5K1C was set to AMBER
Added comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber.
Sources: Expert Review
Mendeliome v0.7981 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Mendeliome v0.7981 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Mendeliome v0.7981 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286
Mendeliome v0.7980 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Mendeliome v0.7979 CNTNAP1 Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7978 CNTNAP1 Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Classified gene: CNTNAP1 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.66 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP1 were set to 24319099; 28254648
Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, MIM# 616286; MONDO:0014569
Review for gene: CNTNAP1 was set to GREEN
Added comment: At least 5 unrelated families reported.
Sources: Expert Review
Mendeliome v0.7978 GLDN Zornitza Stark Marked gene: GLDN as ready
Mendeliome v0.7978 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Mendeliome v0.7978 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Mendeliome v0.7977 GLDN Zornitza Stark Publications for gene: GLDN were set to
Mendeliome v0.7976 GLDN Zornitza Stark Mode of inheritance for gene: GLDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7975 GLDN Zornitza Stark reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194, MONDO:0014965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.288 GLDN Zornitza Stark Marked gene: GLDN as ready
Arthrogryposis v0.288 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Arthrogryposis v0.288 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Arthrogryposis v0.287 GLDN Zornitza Stark Publications for gene: GLDN were set to
Arthrogryposis v0.286 GLDN Zornitza Stark Mode of inheritance for gene: GLDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.65 GLDN Zornitza Stark Marked gene: GLDN as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.65 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Arthrogryposis v0.285 GLDN Zornitza Stark reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194, MONDO:0014965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.65 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, MIM# 617194 to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Multiple pterygium syndrome_Fetal akinesia sequence v0.64 GLDN Zornitza Stark Classified gene: GLDN as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.64 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.63 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDN were set to 27616481; 32812332; 28726266
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194
Review for gene: GLDN was set to GREEN
Added comment: Ten unrelated families reported.
Sources: Expert Review
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Classified gene: ZBTB42 as Amber List (moderate evidence)
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.284 ZBTB42 Zornitza Stark gene: ZBTB42 was added
gene: ZBTB42 was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB42 were set to 25055871
Phenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248
Review for gene: ZBTB42 was set to AMBER
Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert Review
Mendeliome v0.7975 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Mendeliome v0.7975 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7975 ZBTB42 Zornitza Stark Classified gene: ZBTB42 as Amber List (moderate evidence)
Mendeliome v0.7975 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7974 ZBTB42 Zornitza Stark gene: ZBTB42 was added
gene: ZBTB42 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB42 were set to 25055871
Phenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248
Review for gene: ZBTB42 was set to AMBER
Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Classified gene: ZBTB42 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.61 ZBTB42 Zornitza Stark gene: ZBTB42 was added
gene: ZBTB42 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB42 were set to 25055871
Phenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248
Review for gene: ZBTB42 was set to AMBER
Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Tag founder tag was added to gene: NEK9.
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Classified gene: NEK9 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.59 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022
Review for gene: NEK9 was set to AMBER
Added comment: PMID 26908619: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.

Another family reported with milder arthrogryposis.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Phenotypes for gene: MYBPC1 were changed from Distal arthrogryposis type I to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524
Additional findings_Paediatric v0.232 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Additional findings_Paediatric v0.231 MYBPC1 Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.230 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Green List (high evidence)
Additional findings_Paediatric v0.230 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.229 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7973 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Mendeliome v0.7973 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Mendeliome v0.7973 MYBPC1 Zornitza Stark Phenotypes for gene: MYBPC1 were changed from to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524
Mendeliome v0.7972 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Mendeliome v0.7971 MYBPC1 Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7970 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.283 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Arthrogryposis v0.283 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.283 MYBPC1 Zornitza Stark Phenotypes for gene: MYBPC1 were changed from to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915
Arthrogryposis v0.282 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Arthrogryposis v0.281 MYBPC1 Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.280 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.57 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: MYBPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 22610851; 23873045
Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, MIM# 614915
Review for gene: MYBPC1 was set to AMBER
Added comment: Two families reported with lethal congenital contractures, same small ethnic group and same variant, founder. However, gene is associated with a range of neuromuscular phenotypes, including milder forms of arthrogryposis, and zebrafish model is supportive.
Sources: Expert Review
Mendeliome v0.7970 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Mendeliome v0.7970 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Mendeliome v0.7970 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, MIM# 607598 to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis
Mendeliome v0.7969 ERBB3 Zornitza Stark Publications for gene: ERBB3 were set to 17701904; 31752936
Hirschsprung disease v0.15 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 to Hirschsprung disease; Arthrogryposis
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Classified gene: ERBB3 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.55 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598
Review for gene: ERBB3 was set to AMBER
Added comment: Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.54 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.54 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Mendeliome v0.7968 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570
Multiple pterygium syndrome_Fetal akinesia sequence v0.54 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570
Arthrogryposis v0.280 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570
Arthrogryposis v0.279 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570
Multiple pterygium syndrome_Fetal akinesia sequence v0.53 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570
Multiple pterygium syndrome_Fetal akinesia sequence v0.52 ADCY6 Zornitza Stark Classified gene: ADCY6 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.52 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.51 ADCY6 Zornitza Stark gene: ADCY6 was added
gene: ADCY6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, MIM# 616287
Review for gene: ADCY6 was set to GREEN
Added comment: Three unrelated families and supportive data from a zebrafish model.
Sources: Literature
Mendeliome v0.7967 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed phenotypes: Lethal congenital contracture syndrome 9, MIM #616503, MONDO:0014670
Arthrogryposis v0.278 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9; OMIM #616503 to Lethal congenital contracture syndrome 9; OMIM #616503; MONDO:0014670
Arthrogryposis v0.277 ADGRG6 Zornitza Stark changed review comment from: Comment when marking as ready: Gene previously known as GPR126.; to: Comment when marking as ready: Gene previously known as GPR126. Three unrelated families with severe perinatal arthrogryposis.
Arthrogryposis v0.277 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed rating: GREEN
Arthrogryposis v0.277 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503, MONDO:0014670
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.48 ADGRG6 Zornitza Stark gene: ADGRG6 was added
gene: ADGRG6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201; 33820833
Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9, MIM# 616503; MONDO:0014670
Review for gene: ADGRG6 was set to GREEN
Added comment: At least 3 unrelated families reported with severe perinatal phenotype. Gene previously known as GPR126.
Sources: Expert Review
Mendeliome v0.7967 TRPM6 Kristin Rigbye reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomagnesemia 1, intestinal (MIM#602014), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Marked gene: NUP88 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Classified gene: NUP88 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.45 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393
Review for gene: NUP88 was set to GREEN
Added comment: Two families and a zebrafish model.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.44 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.44 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.44 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Fetal akinesia sequence
Multiple pterygium syndrome_Fetal akinesia sequence v0.43 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.42 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655342, 32097819, 30236493; Phenotypes: Fetal akinesia sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Marked gene: AGRN as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Classified gene: AGRN as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.40 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGRN were set to 31730230
Phenotypes for gene: AGRN were set to Fetal akinesia sequence
Review for gene: AGRN was set to AMBER
Added comment: Single report of homozygous intragenic deletion causing fetal akinesia sequence. Association with congenital myasthenia is well established.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.39 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.39 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.39 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388
Multiple pterygium syndrome_Fetal akinesia sequence v0.38 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.37 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179903, 18252226, 28495245; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7967 MUSK Zornitza Stark Marked gene: MUSK as ready
Mendeliome v0.7967 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Mendeliome v0.7967 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; MONDO:0014587
Mendeliome v0.7966 MUSK Zornitza Stark Publications for gene: MUSK were set to
Mendeliome v0.7965 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7964 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350, 15496425, 19949040, 20371544, 32253145; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150, MONDO:0100101, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325, MONDO:0014587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 MUSK Zornitza Stark Marked gene: MUSK as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101
Multiple pterygium syndrome_Fetal akinesia sequence v0.35 MUSK Zornitza Stark Publications for gene: MUSK were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.34 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 MUSK Zornitza Stark edited their review of gene: MUSK: Changed phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150, MONDO:0100101
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 Zornitza Stark Panel name changed from Multiple pterygium syndrome to Multiple pterygium syndrome_Fetal akinesia sequence
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Multiple pterygium syndrome_Fetal akinesia sequence v0.32 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.32 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.32 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Multiple pterygium syndrome_Fetal akinesia sequence v0.31 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.30 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.29 GLE1 Zornitza Stark reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7964 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Mendeliome v0.7964 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Mendeliome v0.7964 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Mendeliome v0.7963 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Mendeliome v0.7962 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7961 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.29 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Multiple pterygium syndrome_Fetal akinesia sequence v0.28 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.27 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599, 31880392; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7961 TPM2 Zornitza Stark Marked gene: TPM2 as ready
Mendeliome v0.7961 TPM2 Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence).
Mendeliome v0.7961 TPM2 Zornitza Stark Phenotypes for gene: TPM2 were changed from to Arthrogryposis, distal, type 1A 108120; Arthrogryposis, distal, type 2B4 108120; CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285; Multiple pterygium syndrome
Mendeliome v0.7960 TPM2 Zornitza Stark Publications for gene: TPM2 were set to
Mendeliome v0.7959 TPM2 Zornitza Stark Mode of inheritance for gene: TPM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7958 TPM2 Zornitza Stark reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32092148, 27726070, 32092148, 24692096; Phenotypes: Arthrogryposis, distal, type 1A 108120, Arthrogryposis, distal, type 2B4 108120, CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Marked gene: TPM2 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Classified gene: TPM2 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.25 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Multiple pterygium syndrome. Sources: Literature
Mode of inheritance for gene: TPM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TPM2 were set to 33558124; 32092148
Phenotypes for gene: TPM2 were set to Multiple pterygium syndrome
Review for gene: TPM2 was set to GREEN
Added comment: Mono-allelic variants: three unrelated individuals reported with more severe multiple pterygium phenotype and recurrent missense, demonstrated de novo in two PMID 32092148.

PMID 33558124: fetus with multiple pterygium syndrome and homozygous canonical splice site variant. This is the second report of bi-allelic disease, the previously reported individual presented with congenital myopathy.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.24 COLQ Zornitza Stark Marked gene: COLQ as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.24 COLQ Zornitza Stark Gene: colq has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.24 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034
Multiple pterygium syndrome_Fetal akinesia sequence v0.23 COLQ Zornitza Stark Publications for gene: COLQ were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.22 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.21 COLQ Zornitza Stark Classified gene: COLQ as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.21 COLQ Zornitza Stark Gene: colq has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 COLQ Zornitza Stark reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v1.2 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient to Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; Neonatal congenital myasthenia; Escobar syndrome; Myasthenia gravis, neonatal transient
Mendeliome v0.7958 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Mendeliome v0.7958 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Mendeliome v0.7958 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Mendeliome v0.7957 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Mendeliome v0.7956 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7955 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.277 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Arthrogryposis v0.277 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Arthrogryposis v0.277 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Arthrogryposis v0.276 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Arthrogryposis v0.275 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.274 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.19 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.18 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7955 CD207 Zornitza Stark Marked gene: CD207 as ready
Mendeliome v0.7955 CD207 Zornitza Stark Gene: cd207 has been classified as Red List (Low Evidence).
Mendeliome v0.7955 CD207 Zornitza Stark Phenotypes for gene: CD207 were changed from to Birbeck granule deficiency, MIM# 613393
Mendeliome v0.7954 CD207 Zornitza Stark Publications for gene: CD207 were set to
Mendeliome v0.7953 CD207 Zornitza Stark Mode of inheritance for gene: CD207 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7952 CD207 Zornitza Stark Classified gene: CD207 as Red List (low evidence)
Mendeliome v0.7952 CD207 Zornitza Stark Gene: cd207 has been classified as Red List (Low Evidence).
Mendeliome v0.7951 CD207 Zornitza Stark reviewed gene: CD207: Rating: RED; Mode of pathogenicity: None; Publications: 15816828; Phenotypes: Birbeck granule deficiency, MIM# 613393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7951 KIF17 Zornitza Stark Marked gene: KIF17 as ready
Mendeliome v0.7951 KIF17 Zornitza Stark Gene: kif17 has been classified as Red List (Low Evidence).
Mendeliome v0.7951 KIF17 Zornitza Stark gene: KIF17 was added
gene: KIF17 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF17 were set to 33922911; 30458707; 28341548
Phenotypes for gene: KIF17 were set to Microphthalmia; Coloboma
Review for gene: KIF17 was set to RED
Added comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.7 KIF17 Zornitza Stark Marked gene: KIF17 as ready
Anophthalmia_Microphthalmia_Coloboma v1.7 KIF17 Zornitza Stark Gene: kif17 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.7 KIF17 Zornitza Stark gene: KIF17 was added
gene: KIF17 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF17 were set to 33922911; 30458707; 28341548
Phenotypes for gene: KIF17 were set to Microphthalmia; Coloboma
Review for gene: KIF17 was set to RED
Added comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development.
Sources: Literature
Mendeliome v0.7950 SASH3 Zornitza Stark Marked gene: SASH3 as ready
Mendeliome v0.7950 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Mendeliome v0.7950 SASH3 Zornitza Stark Classified gene: SASH3 as Green List (high evidence)
Mendeliome v0.7950 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Mendeliome v0.7949 SASH3 Zornitza Stark gene: SASH3 was added
gene: SASH3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SASH3 were set to 33876203
Phenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation
Review for gene: SASH3 was set to GREEN
Added comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense.
Sources: Literature
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Marked gene: SASH3 as ready
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Classified gene: SASH3 as Green List (high evidence)
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.82 SASH3 Zornitza Stark gene: SASH3 was added
gene: SASH3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SASH3 were set to 33876203
Phenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation
Review for gene: SASH3 was set to GREEN
Added comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense.
Sources: Literature
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Marked gene: SASH3 as ready
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Classified gene: SASH3 as Green List (high evidence)
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.196 SASH3 Zornitza Stark gene: SASH3 was added
gene: SASH3 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SASH3 were set to 33876203
Phenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation
Review for gene: SASH3 was set to GREEN
Added comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNE Zornitza Stark Gene: chrne has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from to Congenital myasthenia, multiple types
Multiple pterygium syndrome_Fetal akinesia sequence v0.16 CHRNE Zornitza Stark Mode of inheritance for gene: CHRNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.15 CHRNE Zornitza Stark Classified gene: CHRNE as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.15 CHRNE Zornitza Stark Gene: chrne has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenia, multiple types; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRND Zornitza Stark Marked gene: CHRND as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.13 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Multiple pterygium syndrome_Fetal akinesia sequence v0.12 CHRND Zornitza Stark Publications for gene: CHRND were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.11 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 29399782, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.9 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.8 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 CHRNA1 Zornitza Stark edited their review of gene: CHRNA1: Changed phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.163 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to 26633542; 28741757
Autism v0.162 FOXP1 Zornitza Stark commented on gene: FOXP1: At least 30 unrelated individuals reported.
Autism v0.162 FOXP1 Zornitza Stark edited their review of gene: FOXP1: Changed publications: 26633542, 28741757, 34109629
Mendeliome v0.7948 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Mendeliome v0.7947 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3857 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to 26633542; 28741757
Mendeliome v0.7946 FOXP1 Zornitza Stark changed review comment from: At least 5 unrelated individuals reported.; to: At least 30 unrelated individuals reported.
Mendeliome v0.7946 FOXP1 Zornitza Stark edited their review of gene: FOXP1: Changed publications: 26633542, 28741757, 34109629
Intellectual disability syndromic and non-syndromic v0.3856 FOXP1 Zornitza Stark reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34109629; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7946 FOXP1 Zornitza Stark reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633542, 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3856 PARP6 Zornitza Stark Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Genetic Epilepsy v0.1115 PARP6 Zornitza Stark Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Intellectual disability syndromic and non-syndromic v0.3855 PARP6 Zornitza Stark edited their review of gene: PARP6: Changed publications: 34067418
Microcephaly v1.26 PARP6 Zornitza Stark Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Genetic Epilepsy v0.1114 PARP6 Zornitza Stark edited their review of gene: PARP6: Changed publications: 34067418
Microcephaly v1.25 PARP6 Zornitza Stark edited their review of gene: PARP6: Changed publications: 34067418
Mendeliome v0.7946 PARP6 Zornitza Stark Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Mendeliome v0.7945 PARP6 Zornitza Stark edited their review of gene: PARP6: Changed publications: 34067418
Mendeliome v0.7945 DNAH2 Zornitza Stark edited their review of gene: DNAH2: Added comment: PMID 32732226: compound het variants identified in a fetus with hydrops and complex congenital heart disease detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex congenital heart disease, hypotrophic splenium, and common mesentery.; Changed publications: 30811583, 32732226; Changed phenotypes: Spermatogenic failure 45, MIM# 619094, Heterotaxy
Heterotaxy v1.7 DNAH2 Zornitza Stark Marked gene: DNAH2 as ready
Heterotaxy v1.7 DNAH2 Zornitza Stark Gene: dnah2 has been classified as Red List (Low Evidence).
Heterotaxy v1.7 DNAH2 Zornitza Stark gene: DNAH2 was added
gene: DNAH2 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH2 were set to 32732226
Phenotypes for gene: DNAH2 were set to Hydrops; complex congenital heart disease; heterotaxy
Review for gene: DNAH2 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing.
Sources: Literature
Mendeliome v0.7945 MYBPC2 Zornitza Stark Marked gene: MYBPC2 as ready
Mendeliome v0.7945 MYBPC2 Zornitza Stark Gene: mybpc2 has been classified as Red List (Low Evidence).
Mendeliome v0.7945 MYBPC2 Zornitza Stark gene: MYBPC2 was added
gene: MYBPC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium
Review for gene: MYBPC2 was set to RED
Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 MYBPC2 Zornitza Stark Marked gene: MYBPC2 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 MYBPC2 Zornitza Stark Gene: mybpc2 has been classified as Red List (Low Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 MYBPC2 Zornitza Stark gene: MYBPC2 was added
gene: MYBPC2 was added to Multiple pterygium syndrome. Sources: Literature
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium
Review for gene: MYBPC2 was set to RED
Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Mendeliome v0.7944 SCN7A Zornitza Stark Marked gene: SCN7A as ready
Mendeliome v0.7944 SCN7A Zornitza Stark Gene: scn7a has been classified as Red List (Low Evidence).
Mendeliome v0.7944 SCN7A Zornitza Stark gene: SCN7A was added
gene: SCN7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN7A were set to 32732226
Phenotypes for gene: SCN7A were set to Holoprosencephaly
Review for gene: SCN7A was set to RED
Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v1.1 SCN7A Zornitza Stark Marked gene: SCN7A as ready
Holoprosencephaly and septo-optic dysplasia v1.1 SCN7A Zornitza Stark Gene: scn7a has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v1.1 SCN7A Zornitza Stark gene: SCN7A was added
gene: SCN7A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN7A were set to 32732226
Phenotypes for gene: SCN7A were set to Holoprosencephaly
Review for gene: SCN7A was set to RED
Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation.
Sources: Literature
Mendeliome v0.7943 SPTBN5 Zornitza Stark Marked gene: SPTBN5 as ready
Mendeliome v0.7943 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Red List (Low Evidence).
Mendeliome v0.7943 SPTBN5 Zornitza Stark gene: SPTBN5 was added
gene: SPTBN5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN5 were set to 32732226; 28007035
Phenotypes for gene: SPTBN5 were set to Sacral agenesis; congenital anomalies
Review for gene: SPTBN5 was set to RED
Added comment: Identified as a candidate gene in a sacral agenesis cohort.

PMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis.
Sources: Literature
Mendeliome v0.7942 WDR91 Zornitza Stark Phenotypes for gene: WDR91 were changed from to Hydrocephalus; cerebellar hypoplasia; hygroma
Mendeliome v0.7941 WDR91 Zornitza Stark Publications for gene: WDR91 were set to
Mendeliome v0.7940 WDR91 Zornitza Stark Mode of inheritance for gene: WDR91 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7939 WDR91 Zornitza Stark Classified gene: WDR91 as Amber List (moderate evidence)
Mendeliome v0.7939 WDR91 Zornitza Stark Gene: wdr91 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7938 WDR91 Zornitza Stark commented on gene: WDR91: PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents. Mouse models support role in brain development.
Hydrocephalus_Ventriculomegaly v0.90 WDR91 Zornitza Stark Marked gene: WDR91 as ready
Hydrocephalus_Ventriculomegaly v0.90 WDR91 Zornitza Stark Gene: wdr91 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7938 WDR91 Zornitza Stark reviewed gene: WDR91: Rating: AMBER; Mode of pathogenicity: None; Publications: 34028500, 28860274, 32732226; Phenotypes: Hydrocephalus, cerebellar hypoplasia, hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.90 WDR91 Zornitza Stark Classified gene: WDR91 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.90 WDR91 Zornitza Stark Gene: wdr91 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.89 WDR91 Zornitza Stark gene: WDR91 was added
gene: WDR91 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR91 were set to 34028500; 28860274; 32732226
Phenotypes for gene: WDR91 were set to Hydrocephalus; cerebellar hypoplasia; hygroma
Review for gene: WDR91 was set to AMBER
Added comment: PMID 32732226: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents.

Mouse models support role in brain development.
Sources: Literature
Mendeliome v0.7938 PLEKHN1 Zornitza Stark Marked gene: PLEKHN1 as ready
Mendeliome v0.7938 PLEKHN1 Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence).
Mendeliome v0.7938 PLEKHN1 Zornitza Stark gene: PLEKHN1 was added
gene: PLEKHN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHN1 were set to 33884296
Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy
Review for gene: PLEKHN1 was set to RED
Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation
Sources: Literature
Pain syndromes v0.28 PLEKHN1 Zornitza Stark Marked gene: PLEKHN1 as ready
Pain syndromes v0.28 PLEKHN1 Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence).
Mendeliome v0.7937 ZNF3 Zornitza Stark Marked gene: ZNF3 as ready
Mendeliome v0.7937 ZNF3 Zornitza Stark Gene: znf3 has been classified as Red List (Low Evidence).
Clefting disorders v0.127 ZNF3 Zornitza Stark Marked gene: ZNF3 as ready
Clefting disorders v0.127 ZNF3 Zornitza Stark Gene: znf3 has been classified as Red List (Low Evidence).
Clefting disorders v0.127 ZNF3 Zornitza Stark gene: ZNF3 was added
gene: ZNF3 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF3 were set to 32732226
Phenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia
Review for gene: ZNF3 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.88 ZNF3 Zornitza Stark Marked gene: ZNF3 as ready
Hydrocephalus_Ventriculomegaly v0.88 ZNF3 Zornitza Stark Gene: znf3 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.88 ZNF3 Zornitza Stark gene: ZNF3 was added
gene: ZNF3 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF3 were set to 32732226
Phenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia
Review for gene: ZNF3 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing.
Sources: Literature
Mendeliome v0.7937 SMPDL3A Seb Lunke changed review comment from: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation
Sources: Literature; to: Hom missense variant in twin sisters with severely reduced pain and temperature sensation
Sources: Literature
Mendeliome v0.7937 ZNF3 Zornitza Stark gene: ZNF3 was added
gene: ZNF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF3 were set to 32732226
Phenotypes for gene: ZNF3 were set to Hydrocephalus; cleft palate; microphthalmia
Review for gene: ZNF3 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing.
Sources: Literature
Pain syndromes v0.28 PLEKHN1 Seb Lunke gene: PLEKHN1 was added
gene: PLEKHN1 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHN1 were set to 33884296
Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy
Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation
Sources: Literature
Mendeliome v0.7936 SMPDL3A Seb Lunke Marked gene: SMPDL3A as ready
Mendeliome v0.7936 SMPDL3A Seb Lunke Gene: smpdl3a has been classified as Red List (Low Evidence).
Mendeliome v0.7936 WRAP73 Zornitza Stark Marked gene: WRAP73 as ready
Mendeliome v0.7936 WRAP73 Zornitza Stark Gene: wrap73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7936 WRAP73 Zornitza Stark Classified gene: WRAP73 as Amber List (moderate evidence)
Mendeliome v0.7936 WRAP73 Zornitza Stark Gene: wrap73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7936 SMPDL3A Seb Lunke gene: SMPDL3A was added
gene: SMPDL3A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPDL3A were set to 33884296
Phenotypes for gene: SMPDL3A were set to Sensory Neuropathy
Added comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation
Sources: Literature
Mendeliome v0.7935 WRAP73 Zornitza Stark gene: WRAP73 was added
gene: WRAP73 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WRAP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP73 were set to 33693649
Phenotypes for gene: WRAP73 were set to Microsperophakia
Review for gene: WRAP73 was set to AMBER
Added comment: Two Indian families with same homozygous missense, (p.Pro383Leu) and supportive functional data (zebrafish model).
Sources: Literature
Pain syndromes v0.27 SMPDL3A Seb Lunke Marked gene: SMPDL3A as ready
Pain syndromes v0.27 SMPDL3A Seb Lunke Gene: smpdl3a has been classified as Red List (Low Evidence).
Pain syndromes v0.27 SMPDL3A Seb Lunke gene: SMPDL3A was added
gene: SMPDL3A was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPDL3A were set to 33884296
Phenotypes for gene: SMPDL3A were set to Sensory Neuropathy
Review for gene: SMPDL3A was set to RED
Added comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation
Sources: Literature
Mendeliome v0.7934 EIF2AK2 Zornitza Stark Phenotypes for gene: EIF2AK2 were changed from Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; Dystonia
Mendeliome v0.7933 EIF2AK2 Zornitza Stark edited their review of gene: EIF2AK2: Changed publications: 33236446, 33866603
Mendeliome v0.7933 EIF2AK2 Zornitza Stark Publications for gene: EIF2AK2 were set to 32197074
Mendeliome v0.7932 EIF2AK2 Zornitza Stark edited their review of gene: EIF2AK2: Added comment: Four unrelated families reported with dystonia, recurrent variant, (p.Gly130Arg); Changed publications: 32197074, 33866603; Changed phenotypes: Intellectual disability, white matter abnormalities, ataxia, regression with febrile illness, Dystonia
Dystonia and Chorea v0.182 EIF2AK2 Zornitza Stark Publications for gene: EIF2AK2 were set to 33236446
Dystonia and Chorea v0.181 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Dystonia and Chorea v0.181 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.180 EIF2AK2 Zornitza Stark edited their review of gene: EIF2AK2: Changed rating: GREEN
Dystonia and Chorea v0.180 EIF2AK2 Zornitza Stark edited their review of gene: EIF2AK2: Added comment: PMID 33866603: further report of dystonia in a 3-generation family, same variant (p.Gly130Arg); Changed publications: 33236446, 33866603
Autism v0.162 RELN Zornitza Stark Marked gene: RELN as ready
Autism v0.162 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Autism v0.162 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ASD
Autism v0.161 RELN Zornitza Stark Publications for gene: RELN were set to
Autism v0.160 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.159 RELN Zornitza Stark Classified gene: RELN as Red List (low evidence)
Autism v0.159 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Autism v0.158 RELN Zornitza Stark reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: None
Mendeliome v0.7932 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Mendeliome v0.7932 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Mendeliome v0.7932 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib 232220; Glycogen storage disease Ic 232240; Congenital disorder of glycosylation
Mendeliome v0.7931 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Mendeliome v0.7930 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7929 SLC37A4 Zornitza Stark reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207, 9675154, 9758626; Phenotypes: Glycogen storage disease Ib 232220, Glycogen storage disease Ic 232240, Congenital disorder of glycosylation; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7929 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Mendeliome v0.7929 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Mendeliome v0.7929 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603; Congenital fibrosis of the extraocular muscles, AD
Mendeliome v0.7928 TUBA1A Zornitza Stark Publications for gene: TUBA1A were set to
Mendeliome v0.7927 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7926 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.38 LTBP1 Zornitza Stark Marked gene: LTBP1 as ready
Aortopathy_Connective Tissue Disorders v1.38 LTBP1 Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.38 LTBP1 Zornitza Stark Classified gene: LTBP1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.38 LTBP1 Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.37 LTBP1 Zornitza Stark gene: LTBP1 was added
gene: LTBP1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to cutis laxa syndrome
Review for gene: LTBP1 was set to GREEN
Added comment: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3855 ATXN2L Zornitza Stark Marked gene: ATXN2L as ready
Intellectual disability syndromic and non-syndromic v0.3855 ATXN2L Zornitza Stark Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.79 ATXN2L Zornitza Stark Marked gene: ATXN2L as ready
Macrocephaly_Megalencephaly v0.79 ATXN2L Zornitza Stark Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Stickler Syndrome v1.3 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from sensorineural hearing loss; midface hypoplasia; Stickler syndrome; myopia to Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD
Stickler Syndrome v1.2 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to 31090205; 30450842; 20301479; 24273071
Stickler Syndrome v1.1 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stickler Syndrome v1.0 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Stickler syndrome, AR, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7926 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome; Deafness to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome AR; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD
Mendeliome v0.7925 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to 30450842; 31090205; 24273071; 10090888; 15551337; 33078831; 15917166
Mendeliome v0.7924 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from to Syndromic neurodevelopmental disorder
Mendeliome v0.7923 BCAS3 Zornitza Stark Publications for gene: BCAS3 were set to
Mendeliome v0.7922 BCAS3 Zornitza Stark Mode of inheritance for gene: BCAS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7921 ANGPTL8 Zornitza Stark Marked gene: ANGPTL8 as ready
Mendeliome v0.7921 ANGPTL8 Zornitza Stark Gene: angptl8 has been classified as Red List (Low Evidence).
Mendeliome v0.7921 ANGPTL8 Zornitza Stark Classified gene: ANGPTL8 as Red List (low evidence)
Mendeliome v0.7921 ANGPTL8 Zornitza Stark Gene: angptl8 has been classified as Red List (Low Evidence).
Mendeliome v0.7920 SRCAP Zornitza Stark Marked gene: SRCAP as ready
Mendeliome v0.7920 SRCAP Zornitza Stark Gene: srcap has been classified as Green List (High Evidence).
Mendeliome v0.7920 SRCAP Zornitza Stark Phenotypes for gene: SRCAP were changed from to Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor
Mendeliome v0.7919 SRCAP Zornitza Stark Publications for gene: SRCAP were set to
Mendeliome v0.7918 SRCAP Zornitza Stark Mode of inheritance for gene: SRCAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7917 SRCAP Zornitza Stark reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909990; Phenotypes: Floating-Harbor syndrome MIM#136140, Neurodevelopmental disorder, non-Floating Harbor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3855 SRCAP Zornitza Stark Phenotypes for gene: SRCAP were changed from to Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor
Intellectual disability syndromic and non-syndromic v0.3854 SRCAP Zornitza Stark Publications for gene: SRCAP were set to
Intellectual disability syndromic and non-syndromic v0.3853 SRCAP Zornitza Stark Mode of inheritance for gene: SRCAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3852 SRCAP Zornitza Stark reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, non-Floating Harbor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7917 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Mendeliome v0.7917 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Mendeliome v0.7917 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from to Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome
Aortopathy_Connective Tissue Disorders v1.36 ADAMTSL2 Zornitza Stark changed review comment from: Six families reported with same variant. However, in five, no further segregation studies were performed and overall it is unclear whether this is a founder variant or a recurrent variant. No functional data.; to: Six families reported with same variant. However, in five, no further segregation studies were performed and overall it is unclear whether this is a founder variant or a recurrent variant. No functional data.

Note association between bi-allelic variants and geleophysic dysplasia is well established.
Mendeliome v0.7916 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
Mendeliome v0.7915 ADAMTSL2 Zornitza Stark Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7914 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33369194, 26879370, 21415077; Phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v1.36 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Aortopathy_Connective Tissue Disorders v1.36 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v1.36 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dermatosparaxic Ehlers Danlos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.56 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from cholestasis; congenital diarrhea; impaired hearing; bone fragility to Osteootohepatoenteric syndrome, MIM# 619377; cholestasis; congenital diarrhea; impaired hearing; bone fragility
Osteogenesis Imperfecta and Osteoporosis v0.55 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteootohepatoenteric syndrome, MIM# 619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7914 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Mendeliome v0.7913 UNC45A Zornitza Stark edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing
Congenital Diarrhoea v1.3 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Congenital Diarrhoea v1.2 UNC45A Zornitza Stark edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing
Cholestasis v0.192 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Cholestasis v0.191 UNC45A Zornitza Stark edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing
Intellectual disability syndromic and non-syndromic v0.3852 EIF5A Zornitza Stark Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism
Intellectual disability syndromic and non-syndromic v0.3851 EIF5A Zornitza Stark edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism
Microcephaly v1.25 EIF5A Zornitza Stark Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism
Microcephaly v1.24 EIF5A Zornitza Stark edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism
Mendeliome v0.7913 EIF5A Zornitza Stark Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism
Mendeliome v0.7912 EIF5A Zornitza Stark edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism
Mendeliome v0.7912 HS3ST6 Zornitza Stark Marked gene: HS3ST6 as ready
Mendeliome v0.7912 HS3ST6 Zornitza Stark Gene: hs3st6 has been classified as Red List (Low Evidence).
Mendeliome v0.7912 HS3ST6 Zornitza Stark gene: HS3ST6 was added
gene: HS3ST6 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HS3ST6 were set to 33508266
Phenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367
Review for gene: HS3ST6 was set to RED
Added comment: Three affected individuals from a single family reported, missense variant, no functional data.
Sources: Expert list
Hereditary angioedema v0.12 HS3ST6 Zornitza Stark Marked gene: HS3ST6 as ready
Hereditary angioedema v0.12 HS3ST6 Zornitza Stark Gene: hs3st6 has been classified as Red List (Low Evidence).
Hereditary angioedema v0.12 HS3ST6 Zornitza Stark gene: HS3ST6 was added
gene: HS3ST6 was added to Hereditary angioedema. Sources: Expert list
Mode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HS3ST6 were set to 33508266
Phenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367
Review for gene: HS3ST6 was set to RED
Added comment: Three affected individuals from a single family reported, missense variant, no functional data.
Sources: Expert list
Mendeliome v0.7911 MYOF Zornitza Stark Marked gene: MYOF as ready
Mendeliome v0.7911 MYOF Zornitza Stark Gene: myof has been classified as Red List (Low Evidence).
Mendeliome v0.7911 MYOF Zornitza Stark gene: MYOF was added
gene: MYOF was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOF were set to 32542751
Phenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366
Review for gene: MYOF was set to RED
Added comment: Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data.
Sources: Expert list
Hereditary angioedema v0.11 MYOF Zornitza Stark Marked gene: MYOF as ready
Hereditary angioedema v0.11 MYOF Zornitza Stark Gene: myof has been classified as Red List (Low Evidence).
Hereditary angioedema v0.11 MYOF Zornitza Stark gene: MYOF was added
gene: MYOF was added to Hereditary angioedema. Sources: Expert list
Mode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOF were set to 32542751
Phenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366
Review for gene: MYOF was set to RED
Added comment: Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data.
Sources: Expert list
Hereditary angioedema v0.10 KNG1 Zornitza Stark Marked gene: KNG1 as ready
Hereditary angioedema v0.10 KNG1 Zornitza Stark Gene: kng1 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.10 KNG1 Zornitza Stark Classified gene: KNG1 as Amber List (moderate evidence)
Hereditary angioedema v0.10 KNG1 Zornitza Stark Gene: kng1 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.9 KNG1 Zornitza Stark gene: KNG1 was added
gene: KNG1 was added to Hereditary angioedema. Sources: Expert list
Mode of inheritance for gene: KNG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KNG1 were set to 31087670; 33114181
Phenotypes for gene: KNG1 were set to Hereditary angioedema-6 (HAE6), MIM#619363
Review for gene: KNG1 was set to AMBER
Added comment: Onset of episodic subcutaneous and submucosal swelling is typically in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal oedema. C1INH levels are normal. Two unrelated multigenerational families reported.
Sources: Expert list
Mendeliome v0.7910 KNG1 Zornitza Stark Marked gene: KNG1 as ready
Mendeliome v0.7910 KNG1 Zornitza Stark Gene: kng1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7910 KNG1 Zornitza Stark Phenotypes for gene: KNG1 were changed from to Hereditary angioedema-6 (HAE6), MIM#619363
Mendeliome v0.7909 KNG1 Zornitza Stark Publications for gene: KNG1 were set to
Mendeliome v0.7908 KNG1 Zornitza Stark Mode of inheritance for gene: KNG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7907 KNG1 Zornitza Stark Classified gene: KNG1 as Amber List (moderate evidence)
Mendeliome v0.7907 KNG1 Zornitza Stark Gene: kng1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7906 KNG1 Zornitza Stark reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31087670, 33114181; Phenotypes: Hereditary angioedema-6 (HAE6), MIM#619363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary angioedema v0.8 ANGPT1 Zornitza Stark Marked gene: ANGPT1 as ready
Hereditary angioedema v0.8 ANGPT1 Zornitza Stark Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7906 ANGPT1 Zornitza Stark Marked gene: ANGPT1 as ready
Mendeliome v0.7906 ANGPT1 Zornitza Stark Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7906 ANGPT1 Zornitza Stark Phenotypes for gene: ANGPT1 were changed from Hereditary angioedema to Hereditary angioedema-5 (HAE5), MIM#619361
Mendeliome v0.7905 ANGPT1 Zornitza Stark reviewed gene: ANGPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary angioedema-5 (HAE5), MIM#619361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary angioedema v0.8 ANGPT1 Zornitza Stark Phenotypes for gene: ANGPT1 were changed from Hereditary angioedema to Hereditary angioedema-5 (HAE5), MIM#619361
Hereditary angioedema v0.7 ANGPT1 Zornitza Stark reviewed gene: ANGPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary angioedema-5 (HAE5), MIM#619361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.229 PLG Zornitza Stark Marked gene: PLG as ready
Additional findings_Paediatric v0.229 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.229 PLG Zornitza Stark Phenotypes for gene: PLG were changed from Plasminogen deficiency to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
Additional findings_Paediatric v0.228 PLG Zornitza Stark Publications for gene: PLG were set to
Additional findings_Paediatric v0.227 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.226 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.87 PLG Zornitza Stark Marked gene: PLG as ready
Hydrocephalus_Ventriculomegaly v0.87 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.87 PLG Zornitza Stark Phenotypes for gene: PLG were changed from to Plasminogen deficiency, type I, MIM# 217090
Hydrocephalus_Ventriculomegaly v0.86 PLG Zornitza Stark Publications for gene: PLG were set to
Hydrocephalus_Ventriculomegaly v0.85 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.84 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9242524, 10233898, 21174000, 21174000; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7905 PLG Zornitza Stark changed review comment from: Association between mono-allelic variants and HAE: Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant. Note bi-allelic variants are associated with a separate disorder.

Bi-allelic variants and plasminogen deficiency: congenital plasminogen deficiency is characterised clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. At least 3 unrelated families reported.; to: Association between mono-allelic variants and HAE: Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant. Note bi-allelic variants are associated with a separate disorder.

Bi-allelic variants and plasminogen deficiency: congenital plasminogen deficiency is characterised clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. Over 20 unrelated families reported.
Mendeliome v0.7905 PLG Zornitza Stark edited their review of gene: PLG: Changed publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000
Mendeliome v0.7905 PLG Zornitza Stark Marked gene: PLG as ready
Mendeliome v0.7905 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Mendeliome v0.7905 PLG Zornitza Stark Phenotypes for gene: PLG were changed from to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
Mendeliome v0.7904 PLG Zornitza Stark Publications for gene: PLG were set to
Mendeliome v0.7903 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7902 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary angioedema v0.7 PLG Zornitza Stark Marked gene: PLG as ready
Hereditary angioedema v0.7 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Hereditary angioedema v0.7 PLG Zornitza Stark Classified gene: PLG as Green List (high evidence)
Hereditary angioedema v0.7 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Hereditary angioedema v0.6 PLG Zornitza Stark edited their review of gene: PLG: Changed rating: GREEN
Hereditary angioedema v0.6 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Hereditary angioedema. Sources: Expert list
Mode of inheritance for gene: PLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLG were set to 28795768; 29548426; 29987869
Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360
Added comment: Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant.

Note bi-allelic variants are associated with a separate disorder.
Sources: Expert list
Ataxia v0.283 POU4F1 Zornitza Stark reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7902 POU4F1 Zornitza Stark Phenotypes for gene: POU4F1 were changed from Ataxia; intention tremor; hypotonia to Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352
Mendeliome v0.7901 POU4F1 Zornitza Stark reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7901 PRKD1 Zornitza Stark Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia, 617364 to Congenital heart defects and ectodermal dysplasia, 617364; Congenital heart disease, autosomal recessive
Mendeliome v0.7900 PRKD1 Zornitza Stark Publications for gene: PRKD1 were set to 27479907; 32817298
Mendeliome v0.7899 PRKD1 Zornitza Stark Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR60 Zornitza Stark Tag new gene name tag was added to gene: WDR60.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR60 Zornitza Stark commented on gene: WDR60
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR34 Zornitza Stark Tag new gene name tag was added to gene: WDR34.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR34 Zornitza Stark commented on gene: WDR34
Mackenzie's Mission_Reproductive Carrier Screening v0.102 VARS Zornitza Stark Tag new gene name tag was added to gene: VARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 VARS Zornitza Stark commented on gene: VARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 TMEM5 Zornitza Stark commented on gene: TMEM5
Mackenzie's Mission_Reproductive Carrier Screening v0.102 RARS Zornitza Stark Tag new gene name tag was added to gene: RARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 RARS Zornitza Stark commented on gene: RARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 QARS Zornitza Stark Tag new gene name tag was added to gene: QARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 QARS Zornitza Stark commented on gene: QARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 PIH1D3 Zornitza Stark Tag new gene name tag was added to gene: PIH1D3.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 PIH1D3 Zornitza Stark commented on gene: PIH1D3
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MUT Zornitza Stark Tag new gene name tag was added to gene: MUT.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MUT Zornitza Stark commented on gene: MUT
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MARS Zornitza Stark commented on gene: MARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 ISPD Zornitza Stark commented on gene: ISPD
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C5orf42 Zornitza Stark commented on gene: C5orf42
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C21orf2 Zornitza Stark commented on gene: C21orf2
Mackenzie's Mission_Reproductive Carrier Screening v0.102 APOPT1 Zornitza Stark commented on gene: APOPT1
Mackenzie's Mission_Reproductive Carrier Screening v0.102 APOPT1 Zornitza Stark Tag new gene name tag was added to gene: APOPT1.
Intellectual disability syndromic and non-syndromic v0.3851 PIGF Zornitza Stark Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Intellectual disability syndromic and non-syndromic v0.3850 PIGF Zornitza Stark reviewed gene: PIGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7898 PIGF Zornitza Stark Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol\ deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Mendeliome v0.7897 PIGF Zornitza Stark reviewed gene: PIGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.14 PIGF Zornitza Stark Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Congenital Disorders of Glycosylation v1.13 PIGF Zornitza Stark edited their review of gene: PIGF: Changed rating: RED
Congenital Disorders of Glycosylation v1.13 PIGF Zornitza Stark reviewed gene: PIGF: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SNORD118 Sarah Righetti reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SNORD118 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SNORD118 Sarah Righetti reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7897 PRKD1 Zornitza Stark edited their review of gene: PRKD1: Added comment: Additional publications supporting association with bi-allelic disease:

PMID: 33919081: Three sisters with pulmonary stenosis, truncus arteriosis, and atrial septal defect were homozygous for c.265-1G>T. Their asymptomatic father was also homozygous, however he had two affected sisters (not genotyped), raising the possibility that PRKD1 may undergo autosomal recessive inheritance mode with gender limitation. PMID: 25713110: Two sisters with truncus arteriosis were homozygous for R618X.; Changed publications: 27479907, 32817298, 25713110, 33919081; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.116 PRKD1 Zornitza Stark Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia, 617364 to Congenital heart defects and ectodermal dysplasia, 617364; Autosomal Recessive Congenital Heart Disease
Congenital Heart Defect v0.115 PRKD1 Zornitza Stark Publications for gene: PRKD1 were set to 27479907; 32817298
Congenital Heart Defect v0.114 PRKD1 Zornitza Stark Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.113 PRKD1 Kristin Rigbye reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25713110, 33919081; Phenotypes: Autosomal Recessive Congenital Heart Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7897 ATXN2L Seb Lunke Marked gene: ATXN2L as ready
Mendeliome v0.7897 ATXN2L Seb Lunke Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7897 ATXN2L Seb Lunke Classified gene: ATXN2L as Amber List (moderate evidence)
Mendeliome v0.7897 ATXN2L Seb Lunke Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7896 ATXN2L Seb Lunke gene: ATXN2L was added
gene: ATXN2L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN2L were set to 33283965; 33057194
Phenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability
Review for gene: ATXN2L was set to AMBER
Added comment: Sources: Literature
Mendeliome v0.7895 LTBP1 Seb Lunke Marked gene: LTBP1 as ready
Mendeliome v0.7895 LTBP1 Seb Lunke Gene: ltbp1 has been classified as Green List (High Evidence).
Mendeliome v0.7895 LTBP1 Seb Lunke Classified gene: LTBP1 as Green List (high evidence)
Mendeliome v0.7895 LTBP1 Seb Lunke Gene: ltbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3850 BCAS3 Seb Lunke Marked gene: BCAS3 as ready
Intellectual disability syndromic and non-syndromic v0.3850 BCAS3 Seb Lunke Gene: bcas3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3850 BCAS3 Seb Lunke Classified gene: BCAS3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3850 BCAS3 Seb Lunke Gene: bcas3 has been classified as Green List (High Evidence).
Mendeliome v0.7894 SLC30A5 Seb Lunke Classified gene: SLC30A5 as Amber List (moderate evidence)
Mendeliome v0.7894 SLC30A5 Seb Lunke Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7893 SLC30A5 Seb Lunke Marked gene: SLC30A5 as ready
Mendeliome v0.7893 SLC30A5 Seb Lunke Gene: slc30a5 has been removed from the panel.
Mendeliome v0.7893 CADM3 Seb Lunke Marked gene: CADM3 as ready
Mendeliome v0.7893 CADM3 Seb Lunke Added comment: Comment when marking as ready: Three families, but evidence not that great and missing segregation, so stays amber.
Mendeliome v0.7893 CADM3 Seb Lunke Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7893 CADM3 Seb Lunke Classified gene: CADM3 as Amber List (moderate evidence)
Mendeliome v0.7893 CADM3 Seb Lunke Gene: cadm3 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.281 ARL3 Zornitza Stark Marked gene: ARL3 as ready
Ciliopathies v0.281 ARL3 Zornitza Stark Gene: arl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.13 SLC37A4 Sue White Classified gene: SLC37A4 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.13 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Mendeliome v0.7892 PGM2L1 Sue White Marked gene: PGM2L1 as ready
Mendeliome v0.7892 PGM2L1 Sue White Gene: pgm2l1 has been classified as Green List (High Evidence).
Mendeliome v0.7892 PGM2L1 Sue White Classified gene: PGM2L1 as Green List (high evidence)
Mendeliome v0.7892 PGM2L1 Sue White Gene: pgm2l1 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.7 SLC37A4 Sue White Marked gene: SLC37A4 as ready
Liver Failure_Paediatric v1.7 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.7 SLC37A4 Sue White Classified gene: SLC37A4 as Green List (high evidence)
Liver Failure_Paediatric v1.7 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.113 SLC37A4 Sue White Marked gene: SLC37A4 as ready
Congenital Heart Defect v0.113 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.113 SLC37A4 Sue White Classified gene: SLC37A4 as Green List (high evidence)
Congenital Heart Defect v0.113 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3849 PGM2L1 Sue White Marked gene: PGM2L1 as ready
Intellectual disability syndromic and non-syndromic v0.3849 PGM2L1 Sue White Gene: pgm2l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3849 PGM2L1 Sue White Classified gene: PGM2L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3849 PGM2L1 Sue White Gene: pgm2l1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Marked gene: SLC37A4 as ready
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Classified gene: SLC37A4 as Green List (high evidence)
Bleeding and Platelet Disorders v1.1 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Marked gene: SLC30A5 as ready
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Classified gene: SLC30A5 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.92 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7891 BCAS3 Sue White Marked gene: BCAS3 as ready
Mendeliome v0.7891 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.14 BCAS3 Sue White Marked gene: BCAS3 as ready
Hereditary Spastic Paraplegia v1.14 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.14 BCAS3 Sue White Classified gene: BCAS3 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.14 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1114 BCAS3 Sue White Marked gene: BCAS3 as ready
Genetic Epilepsy v0.1114 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1114 BCAS3 Sue White Classified gene: BCAS3 as Green List (high evidence)
Genetic Epilepsy v0.1114 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Microcephaly v1.24 BCAS3 Sue White Marked gene: BCAS3 as ready
Microcephaly v1.24 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Microcephaly v1.24 BCAS3 Sue White Classified gene: BCAS3 as Green List (high evidence)
Microcephaly v1.24 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Callosome v0.299 BCAS3 Sue White Marked gene: BCAS3 as ready
Callosome v0.299 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Callosome v0.299 BCAS3 Sue White Classified gene: BCAS3 as Green List (high evidence)
Callosome v0.299 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Mendeliome v0.7891 RELN Ee Ming Wong reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25648840; Phenotypes: Myoclonus dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hydrops fetalis v0.202 SLC30A5 Sue White Marked gene: SLC30A5 as ready
Hydrops fetalis v0.202 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.202 SLC30A5 Sue White Classified gene: SLC30A5 as Amber List (moderate evidence)
Hydrops fetalis v0.202 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v1.19 LTBP1 Sue White Marked gene: LTBP1 as ready
Craniosynostosis v1.19 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Craniosynostosis v1.19 LTBP1 Sue White Classified gene: LTBP1 as Green List (high evidence)
Craniosynostosis v1.19 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Cutis Laxa v0.7 LTBP1 Sue White Marked gene: LTBP1 as ready
Cutis Laxa v0.7 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Cutis Laxa v0.7 LTBP1 Sue White Classified gene: LTBP1 as Green List (high evidence)
Cutis Laxa v0.7 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3848 LTBP1 Sue White Classified gene: LTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3848 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Vitreoretinopathy v1.2 COL9A3 Sue White Classified gene: COL9A3 as Green List (high evidence)
Vitreoretinopathy v1.2 COL9A3 Sue White Gene: col9a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v1.2 TUBA1A Sue White Marked gene: TUBA1A as ready
Congenital ophthalmoplegia v1.2 TUBA1A Sue White Gene: tuba1a has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v1.2 TUBA1A Sue White Classified gene: TUBA1A as Green List (high evidence)
Congenital ophthalmoplegia v1.2 TUBA1A Sue White Gene: tuba1a has been classified as Green List (High Evidence).
Vitreoretinopathy v1.1 COL9A3 Sue White Marked gene: COL9A3 as ready
Vitreoretinopathy v1.1 COL9A3 Sue White Gene: col9a3 has been removed from the panel.
Vitreoretinopathy v1.1 COL9A3 Kristin Rigbye gene: COL9A3 was added
gene: COL9A3 was added to Vitreoretinopathy. Sources: Literature
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL9A3 were set to 33633367
Phenotypes for gene: COL9A3 were set to Peripheral vitreoretinal degeneration and retinal detachment, AD
Review for gene: COL9A3 was set to GREEN
Added comment: New genotype-phenotype correlation reported in PMID: 33633367 - Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment:

c.1107+1G>C and Gly130Ser

cDNA studies of the splice variant demonstrated an in-frame deletion in the COL2 domain, and the missense variant occurred in the COL3 domain.

In Family 1, 14 affected individuals of Filipino/Australian ethnicity presented with vitreoretinal degeneration in a pattern suggestive of autosomal dominant inheritance (Fig. 1A). Affected individuals had extensive bilateral lattice vitreoretinal degeneration, with an abnormal vitreoretinal interface particularly at the vitreous base, where the retina was thinned and prone to tears. In Family 2 from New Zealand, three affected members of European background presented with vitreoretinal degeneration and retinal detachment, also in a pattern suggestive of autosomal dominant inheritance (Fig. 1B). In affected individuals in both families with extensive vitreoretinal degeneration, laser intervention or cryotherapy was recommended to prevent further vitreoretinal detachment or tearing.
Sources: Literature
Autism v0.158 RELN Ee Ming Wong reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28419454, 29969175; Phenotypes: ASD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital ophthalmoplegia v1.1 TUBA1A Kristin Rigbye gene: TUBA1A was added
gene: TUBA1A was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA1A were set to 30677308
Phenotypes for gene: TUBA1A were set to Congenital fibrosis of the extraocular muscles, AD
Review for gene: TUBA1A was set to GREEN
Added comment: PMID: 30677308 New genotype-phenotype correlation - congenital fibrosis of the extraocular muscles (CFEOM), with or without malformations of cortical brain development.

3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p.(Arg156His); and c.1193T>G, p.(Met398Arg). MRI revealed small oculomotor-innervated muscles and asymmetrical caudate heads and lateral ventricles with or without corpus callosal thinning. Two of the three probands had MCD. Infantile onset.

Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3847 LTBP1 Chern Lim changed review comment from: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Most of the affected individuals have developmental delay and other neurological features.
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature; to: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Most of the affected individuals have developmental delay and other neurological features.
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3847 LTBP1 Chern Lim gene: LTBP1 was added
gene: LTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to cutis laxa syndrome
Review for gene: LTBP1 was set to GREEN
gene: LTBP1 was marked as current diagnostic
Added comment: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Most of the affected individuals have developmental delay and other neurological features.
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Mendeliome v0.7891 TUBA1A Kristin Rigbye edited their review of gene: TUBA1A: Changed phenotypes: Congenital fibrosis of the extraocular muscles, AD
Cutis Laxa v0.6 LTBP1 Chern Lim gene: LTBP1 was added
gene: LTBP1 was added to Cutis Laxa. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to cutis laxa syndrome
Review for gene: LTBP1 was set to GREEN
gene: LTBP1 was marked as current diagnostic
Added comment: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Craniosynostosis v1.18 LTBP1 Chern Lim gene: LTBP1 was added
gene: LTBP1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to cutis laxa syndrome
Review for gene: LTBP1 was set to GREEN
gene: LTBP1 was marked as current diagnostic
Added comment: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Hydrops fetalis v0.201 SLC30A5 Melanie Marty gene: SLC30A5 was added
gene: SLC30A5 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy
Review for gene: SLC30A5 was set to AMBER
Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Sources: Literature
Callosome v0.298 BCAS3 Paul De Fazio edited their review of gene: BCAS3: Changed rating: GREEN
Microcephaly v1.23 BCAS3 Paul De Fazio gene: BCAS3 was added
gene: BCAS3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
Review for gene: BCAS3 was set to GREEN
gene: BCAS3 was marked as current diagnostic
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.

7 patients had microcephaly (head circumference <= -3 SD)
Sources: Literature
Cardiomyopathy_Paediatric v0.91 SLC30A5 Melanie Marty gene: SLC30A5 was added
gene: SLC30A5 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy
Review for gene: SLC30A5 was set to AMBER
Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Sources: Literature
Callosome v0.298 BCAS3 Paul De Fazio gene: BCAS3 was added
gene: BCAS3 was added to Callosome. Sources: Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
gene: BCAS3 was marked as current diagnostic
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.

Most patients had thin corpus callosum.
Sources: Literature
Genetic Epilepsy v0.1113 BCAS3 Paul De Fazio gene: BCAS3 was added
gene: BCAS3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
Review for gene: BCAS3 was set to GREEN
gene: BCAS3 was marked as current diagnostic
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.

8 patients had epilepsy.
Sources: Literature
Hereditary Spastic Paraplegia v1.13 BCAS3 Paul De Fazio gene: BCAS3 was added
gene: BCAS3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
Review for gene: BCAS3 was set to GREEN
gene: BCAS3 was marked as current diagnostic
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.

All patients had hyperreflexia, spasticity.
Sources: Literature
Bleeding and Platelet Disorders v1.0 SLC37A4 Paul De Fazio gene: SLC37A4 was added
gene: SLC37A4 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC37A4 were set to 33964207
Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency
Review for gene: SLC37A4 was set to GREEN
gene: SLC37A4 was marked as current diagnostic
Added comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.

Note that although most/all patients had abnormal clotting factors, only one was noted to have a history of bruising/bleeding.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3847 PGM2L1 Chern Lim gene: PGM2L1 was added
gene: PGM2L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder
Review for gene: PGM2L1 was set to GREEN
gene: PGM2L1 was marked as current diagnostic
Added comment: PMID: 33979636:
- Hom/chet PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.
- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect.
Sources: Literature
Congenital Heart Defect v0.112 SLC37A4 Paul De Fazio gene: SLC37A4 was added
gene: SLC37A4 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC37A4 were set to 33964207
Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency
Review for gene: SLC37A4 was set to GREEN
gene: SLC37A4 was marked as current diagnostic
Added comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.
Sources: Literature
Liver Failure_Paediatric v1.6 SLC37A4 Paul De Fazio edited their review of gene: SLC37A4: Changed phenotypes: Congenital disorder of glycosylation, liver dysfunction, coagulation deficiency
Liver Failure_Paediatric v1.6 SLC37A4 Paul De Fazio gene: SLC37A4 was added
gene: SLC37A4 was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC37A4 were set to 33964207
Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation
Review for gene: SLC37A4 was set to GREEN
gene: SLC37A4 was marked as current diagnostic
Added comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.

Some patients diagnosed in adulthood but most in childhood.
Sources: Literature
Mendeliome v0.7891 TUBA1A Kristin Rigbye reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30677308; Phenotypes: Congenital fibrosis of the extraocular muscles; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7891 PGM2L1 Chern Lim reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33979636; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v1.12 SLC37A4 Sue White reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3847 SRCAP Sue White Marked gene: SRCAP as ready
Intellectual disability syndromic and non-syndromic v0.3847 SRCAP Sue White Gene: srcap has been classified as Green List (High Evidence).
Mendeliome v0.7891 PGM2L1 Chern Lim Deleted their review
Mendeliome v0.7891 LTBP1 Chern Lim gene: LTBP1 was added
gene: LTBP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to cutis laxa syndrome
Review for gene: LTBP1 was set to GREEN
gene: LTBP1 was marked as current diagnostic
Added comment: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Mendeliome v0.7891 SLC30A5 Melanie Marty gene: SLC30A5 was added
gene: SLC30A5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy
Review for gene: SLC30A5 was set to AMBER
Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Sources: Literature
Mendeliome v0.7891 SRCAP Paul De Fazio reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909990; Phenotypes: Floating-Harbor syndrome MIM#136140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3847 ATXN2L Sue White Classified gene: ATXN2L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3847 ATXN2L Sue White Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.79 ATXN2L Sue White Classified gene: ATXN2L as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.79 ATXN2L Sue White Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3846 ATXN2L Sue White gene: ATXN2L was added
gene: ATXN2L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN2L were set to 33283965; 33057194
Phenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability
Penetrance for gene: ATXN2L were set to Complete
Review for gene: ATXN2L was set to AMBER
Added comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0
Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work.
Sources: Literature
Macrocephaly_Megalencephaly v0.78 ATXN2L Sue White gene: ATXN2L was added
gene: ATXN2L was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN2L were set to 33283965; 33057194
Phenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability
Penetrance for gene: ATXN2L were set to unknown
Review for gene: ATXN2L was set to AMBER
Added comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0
Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work.
Sources: Literature
Mendeliome v0.7891 COL9A3 Kristin Rigbye reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, AD, MIM# 600969, Stickler syndrome, AR, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7891 BCAS3 Paul De Fazio reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34022130; Phenotypes: Syndromic neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3845 BCAS3 Paul De Fazio gene: BCAS3 was added
gene: BCAS3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
Review for gene: BCAS3 was set to GREEN
gene: BCAS3 was marked as current diagnostic
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.
Sources: Literature
Mendeliome v0.7891 CADM3 Teresa Zhao gene: CADM3 was added
gene: CADM3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CADM3 were set to PMID: 33889941
Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease
Review for gene: CADM3 was set to AMBER
Added comment: Three families reported with the same missense variant in CADM3 p.Tyr172Cys (one family de novo), with mice work to show reduced expression of the mutant protein in axons and abnormal axonal organization.
Sources: Literature
Mendeliome v0.7891 ANGPTL8 Dean Phelan gene: ANGPTL8 was added
gene: ANGPTL8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANGPTL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPTL8 were set to PMID: 33909604
Phenotypes for gene: ANGPTL8 were set to Low serum triglycerides; Coronary artery disease
Review for gene: ANGPTL8 was set to RED
Added comment: PMID: 33909604 - Population studies showed PTV are associated with both lipid levels and coronary artery disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3845 SRCAP Paul De Fazio changed review comment from: Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder Floating-Harbor syndrome (FLHS).

A cohort of 33 individuals with mostly de novo truncating variants both proximal and distal to the FLHS locus were found to have a distinct phenotype and DNA methylation pattern to FLHS.; to: Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS).

A cohort of 33 individuals with mostly de novo truncating variants both proximal and distal to the FLHS locus were found to have a distinct phenotype and DNA methylation pattern to FLHS, referred to by the authors as "non-FLHS SRCAP-related NDD".
Aortopathy_Connective Tissue Disorders v1.36 ADAMTSL2 Sue White Classified gene: ADAMTSL2 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v1.36 ADAMTSL2 Sue White Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3845 SRCAP Paul De Fazio reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909990; Phenotypes: Floating-Harbor syndrome MIM#136140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.7891 PGM2L1 Chern Lim gene: PGM2L1 was added
gene: PGM2L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris
Review for gene: PGM2L1 was set to GREEN
gene: PGM2L1 was marked as current diagnostic
Added comment: PMID: 33979636:
- Hom/chet PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.
- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.35 ADAMTSL2 Sue White gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAMTSL2 were set to 33369194; 26879370
Phenotypes for gene: ADAMTSL2 were set to Dermatosparaxic Ehlers Danlos syndrome
Penetrance for gene: ADAMTSL2 were set to unknown
Review for gene: ADAMTSL2 was set to AMBER
Added comment: Desai et al reported one family with a monoallelic variant in ADAMTSL2 (p. Gly421Ser) and features of Dermatosparaxic EDS (dEDS).
Steinle et al reported 5 unrelated individuals with the same missense variant in ADAMTSL2 (p. Gly421Ser) and connective tissue phenotype including generalized joint hypermobility and pain with fragility of internal and external tissues including of skin, dura, and arteries. Individuals had family history consistent with autosomal dominant inheritance.
No functional studies done. Variant is absent from GnomAD.
Sources: Literature
Congenital Disorders of Glycosylation v1.12 SLC37A4 Paul De Fazio reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Angelman Rett like syndromes v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.7891 KCNB1 Zornitza Stark Marked gene: KCNB1 as ready
Mendeliome v0.7891 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Mendeliome v0.7891 KCNB1 Zornitza Stark Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056
Mendeliome v0.7890 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to
Mendeliome v0.7889 KCNB1 Zornitza Stark Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7888 KCNB1 Zornitza Stark reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.338 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Regression v0.338 SYT1 Zornitza Stark Gene: syt1 has been classified as Red List (Low Evidence).
Regression v0.338 SYT1 Zornitza Stark Phenotypes for gene: SYT1 were changed from to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864
Regression v0.337 SYT1 Zornitza Stark Publications for gene: SYT1 were set to
Regression v0.336 SYT1 Zornitza Stark Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.335 SYT1 Zornitza Stark Classified gene: SYT1 as Red List (low evidence)
Regression v0.335 SYT1 Zornitza Stark Gene: syt1 has been classified as Red List (Low Evidence).
Regression v0.334 SYT1 Zornitza Stark reviewed gene: SYT1: Rating: RED; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3845 SYT1 Zornitza Stark reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3845 SYT1 Zornitza Stark Phenotypes for gene: SYT1 were changed from Baker-Gordon syndrome; OMIM #618218 to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864
Mendeliome v0.7888 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Mendeliome v0.7888 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Mendeliome v0.7888 SYT1 Zornitza Stark Phenotypes for gene: SYT1 were changed from to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864
Mendeliome v0.7887 SYT1 Zornitza Stark Publications for gene: SYT1 were set to
Mendeliome v0.7886 SYT1 Zornitza Stark Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7885 SYT1 Zornitza Stark reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.95 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Angelman Rett like syndromes v0.95 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.95 SYT1 Zornitza Stark Phenotypes for gene: SYT1 were changed from to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864
Angelman Rett like syndromes v0.94 SYT1 Zornitza Stark Publications for gene: SYT1 were set to
Angelman Rett like syndromes v0.93 SYT1 Zornitza Stark Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.92 SYT1 Zornitza Stark reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.92 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Angelman Rett like syndromes v0.92 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.92 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Angelman Rett like syndromes v0.91 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.90 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.180 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Dystonia and Chorea v0.179 UBTF Zornitza Stark reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.283 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Intellectual disability syndromic and non-syndromic v0.3844 UBTF Zornitza Stark Marked gene: UBTF as ready
Intellectual disability syndromic and non-syndromic v0.3844 UBTF Zornitza Stark Gene: ubtf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3844 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Intellectual disability syndromic and non-syndromic v0.3843 UBTF Zornitza Stark Publications for gene: UBTF were set to
Intellectual disability syndromic and non-syndromic v0.3842 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3841 UBTF Zornitza Stark reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.334 UBTF Zornitza Stark Marked gene: UBTF as ready
Regression v0.334 UBTF Zornitza Stark Gene: ubtf has been classified as Green List (High Evidence).
Regression v0.334 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Regression v0.333 UBTF Zornitza Stark Publications for gene: UBTF were set to
Regression v0.332 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.331 UBTF Zornitza Stark reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7885 UBTF Zornitza Stark Marked gene: UBTF as ready
Mendeliome v0.7885 UBTF Zornitza Stark Gene: ubtf has been classified as Green List (High Evidence).
Mendeliome v0.7885 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Mendeliome v0.7884 UBTF Zornitza Stark Publications for gene: UBTF were set to
Mendeliome v0.7883 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7882 UBTF Zornitza Stark reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.90 UBTF Zornitza Stark Marked gene: UBTF as ready
Angelman Rett like syndromes v0.90 UBTF Zornitza Stark Gene: ubtf has been classified as Amber List (Moderate Evidence).
Angelman Rett like syndromes v0.90 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Angelman Rett like syndromes v0.89 UBTF Zornitza Stark Publications for gene: UBTF were set to
Angelman Rett like syndromes v0.88 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.87 UBTF Zornitza Stark Classified gene: UBTF as Amber List (moderate evidence)
Angelman Rett like syndromes v0.87 UBTF Zornitza Stark Gene: ubtf has been classified as Amber List (Moderate Evidence).
Angelman Rett like syndromes v0.86 UBTF Zornitza Stark reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: None
Clefting disorders v0.126 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Clefting disorders v0.126 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Clefting disorders v0.126 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from MOWAT-WILSON SYNDROME; MOWS to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Clefting disorders v0.125 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Clefting disorders v0.124 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384, 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.23 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Microcephaly v1.22 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Mendeliome v0.7882 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Mendeliome v0.7882 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Mendeliome v0.7882 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Mendeliome v0.7881 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Congenital Heart Defect v0.112 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Congenital Heart Defect v0.112 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Congenital Heart Defect v0.112 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.112 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Congenital Heart Defect v0.111 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Congenital Heart Defect v0.110 ZEB2 Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.109 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384, 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1113 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Genetic Epilepsy v0.1113 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Genetic Epilepsy v0.1112 ZEB2 Zornitza Stark edited their review of gene: ZEB2: Changed publications: 29300384, 27831545, 24715670, 19215041, 17958891
Intellectual disability syndromic and non-syndromic v0.3841 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Genetic Epilepsy v0.1112 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Genetic Epilepsy v0.1112 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3840 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Intellectual disability syndromic and non-syndromic v0.3840 ZEB2 Zornitza Stark edited their review of gene: ZEB2: Changed phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341
Genetic Epilepsy v0.1112 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Genetic Epilepsy v0.1111 ZEB2 Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1110 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hirschsprung disease v0.14 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Hirschsprung disease v0.14 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Callosome v0.298 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Callosome v0.298 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Callosome v0.298 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Callosome v0.298 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Callosome v0.297 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Callosome v0.296 ZEB2 Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.295 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.86 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Angelman Rett like syndromes v0.86 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.86 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Angelman Rett like syndromes v0.85 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Angelman Rett like syndromes v0.84 ZEB2 Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.83 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Angelman Rett like syndromes v0.83 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.83 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Angelman Rett like syndromes v0.83 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3840 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Intellectual disability syndromic and non-syndromic v0.3840 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3840 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278
Intellectual disability syndromic and non-syndromic v0.3839 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Intellectual disability syndromic and non-syndromic v0.3838 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3837 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1110 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Genetic Epilepsy v0.1110 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1110 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278
Genetic Epilepsy v0.1109 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Genetic Epilepsy v0.1108 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1107 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7881 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Mendeliome v0.7881 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.83 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Angelman Rett like syndromes v0.83 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.83 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278
Mendeliome v0.7881 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278
Mendeliome v0.7880 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Mendeliome v0.7879 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7878 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Angelman Rett like syndromes v0.82 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Angelman Rett like syndromes v0.81 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Angelman Rett like syndromes v0.80 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7878 RPL3L Zornitza Stark Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy
Mendeliome v0.7877 RPL3L Zornitza Stark reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371, Neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.3 Zornitza Stark removed gene:RPL3L from the panel
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Marked gene: RPL3L as ready
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Gene: rpl3l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Classified gene: RPL3L as Green List (high evidence)
Cardiomyopathy_Paediatric v0.91 RPL3L Zornitza Stark Gene: rpl3l has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.90 RPL3L Zornitza Stark gene: RPL3L was added
gene: RPL3L was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to 32514796; 32870709
Phenotypes for gene: RPL3L were set to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Dilated Cardiomyopathy v1.2 RPL3L Zornitza Stark reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.226 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Additional findings_Paediatric v0.226 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.226 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Additional findings_Paediatric v0.225 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Additional findings_Paediatric v0.224 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Additional findings_Paediatric v0.224 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: None
Lymphoedema v0.10 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Lymphoedema v0.10 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Lymphoedema v0.10 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Lymphoedema v0.10 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Lymphoedema v0.9 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Lymphoedema v0.8 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema v0.7 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31319798; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.158 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Regression v0.331 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Autism v0.158 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Autism v0.158 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Autism v0.158 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Autism v0.157 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Autism v0.156 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.155 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.331 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from # 606232. PHELAN-MCDERMID SYNDROME - PHMDS to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Intellectual disability syndromic and non-syndromic v0.3837 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Intellectual disability syndromic and non-syndromic v0.3837 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3837 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Intellectual disability syndromic and non-syndromic v0.3836 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Intellectual disability syndromic and non-syndromic v0.3835 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3834 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Intellectual disability syndromic and non-syndromic v0.3834 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7877 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to 30842224
Mendeliome v0.7876 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Mendeliome v0.7876 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark changed review comment from: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.

Well established gene-disease association, deletions are common.; to: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.

Well established gene-disease association, deletions are common.

Multiple individuals reported in Rett-like cohorts, PMID 30842224.
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark edited their review of gene: SHANK3: Changed publications: 30842224, 16284256, 17173049, 20186804, 22892527
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark edited their review of gene: SHANK3: Changed publications: 30842224
Mendeliome v0.7876 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes to Phelan-McDermid syndrome 606232; MONDO:0011652
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, MIM# 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232
Angelman Rett like syndromes v0.78 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Angelman Rett like syndromes v0.77 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.76 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.31 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Pierre Robin Sequence v0.31 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.31 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147
Pierre Robin Sequence v0.30 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Pierre Robin Sequence v0.29 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.28 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.124 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Clefting disorders v0.124 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Clefting disorders v0.124 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features to Glass syndrome, MIM# 612313; MONDO:0100147
Clefting disorders v0.123 SATB2 Zornitza Stark Publications for gene: SATB2 were set to 16179223
Clefting disorders v0.122 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.121 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3834 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Intellectual disability syndromic and non-syndromic v0.3834 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3834 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147
Intellectual disability syndromic and non-syndromic v0.3833 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Intellectual disability syndromic and non-syndromic v0.3832 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3831 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7875 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Mendeliome v0.7875 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Mendeliome v0.7875 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147
Mendeliome v0.7874 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Mendeliome v0.7873 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7872 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.76 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Angelman Rett like syndromes v0.76 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1107 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from Glass syndrome, MIM# 612313 to Glass syndrome, MIM# 612313; MONDO:0100147
Angelman Rett like syndromes v0.76 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147
Angelman Rett like syndromes v0.75 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Angelman Rett like syndromes v0.74 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.73 SATB2 Zornitza Stark changed review comment from: Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor.

Over 30 unrelated individuals reported.; to: Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor.

Over 100 unrelated individuals reported.
Angelman Rett like syndromes v0.73 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.73 ATRX Zornitza Stark Marked gene: ATRX as ready
Angelman Rett like syndromes v0.73 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.73 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580
Angelman Rett like syndromes v0.72 ATRX Zornitza Stark Publications for gene: ATRX were set to
Angelman Rett like syndromes v0.71 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.70 ATRX Zornitza Stark edited their review of gene: ATRX: Changed publications: 20301622
Angelman Rett like syndromes v0.70 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1106 MEF2C Zornitza Stark Tag SV/CNV tag was added to gene: MEF2C.
Tag 5'UTR tag was added to gene: MEF2C.
Genetic Epilepsy v0.1106 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Genetic Epilepsy v0.1106 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1106 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266
Genetic Epilepsy v0.1105 MEF2C Zornitza Stark Publications for gene: MEF2C were set to
Genetic Epilepsy v0.1104 MEF2C Zornitza Stark Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1103 MEF2C Zornitza Stark reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443, MONDO:0013266 Edit; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3831 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Intellectual disability syndromic and non-syndromic v0.3831 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3831 MEF2C Zornitza Stark Tag SV/CNV tag was added to gene: MEF2C.
Tag 5'UTR tag was added to gene: MEF2C.
Intellectual disability syndromic and non-syndromic v0.3831 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266
Intellectual disability syndromic and non-syndromic v0.3830 MEF2C Zornitza Stark Publications for gene: MEF2C were set to
Intellectual disability syndromic and non-syndromic v0.3829 MEF2C Zornitza Stark Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3828 MEF2C Zornitza Stark reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443, MONDO:0013266 Edit; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7872 MEF2C Zornitza Stark Tag SV/CNV tag was added to gene: MEF2C.
Tag 5'UTR tag was added to gene: MEF2C.
Mendeliome v0.7872 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 to Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; MONDO:0013266
Mendeliome v0.7871 MEF2C Zornitza Stark Publications for gene: MEF2C were set to
Mendeliome v0.7870 MEF2C Zornitza Stark reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443, MONDO:0013266 Edit; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.70 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Angelman Rett like syndromes v0.70 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.70 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266
Angelman Rett like syndromes v0.69 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Angelman Rett like syndromes v0.68 MEF2C Zornitza Stark Publications for gene: MEF2C were set to
Angelman Rett like syndromes v0.67 MEF2C Zornitza Stark Tag SV/CNV tag was added to gene: MEF2C.
Tag 5'UTR tag was added to gene: MEF2C.
Angelman Rett like syndromes v0.67 MEF2C Zornitza Stark Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.66 MEF2C Zornitza Stark reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; MONDO:0010726
Angelman Rett like syndromes v0.65 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.64 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, MONDO:0010726; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.155 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Autism v0.155 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Autism v0.155 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Autism v0.155 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Autism v0.154 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Autism v0.153 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.152 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3828 MBD5 Zornitza Stark edited their review of gene: MBD5: Changed phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974
Intellectual disability syndromic and non-syndromic v0.3828 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Intellectual disability syndromic and non-syndromic v0.3828 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3828 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Intellectual disability syndromic and non-syndromic v0.3828 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Intellectual disability syndromic and non-syndromic v0.3827 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Intellectual disability syndromic and non-syndromic v0.3826 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7870 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Mendeliome v0.7870 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Mendeliome v0.7870 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Mendeliome v0.7870 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Intellectual disability syndromic and non-syndromic v0.3825 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: 18812405, 21981781, 23708187, 22726846, 33912662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7869 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Genetic Epilepsy v0.1103 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Genetic Epilepsy v0.1103 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1103 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Mendeliome v0.7868 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1102 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Genetic Epilepsy v0.1101 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1100 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Genetic Epilepsy v0.1100 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7867 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Angelman Rett like syndromes v0.63 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Angelman Rett like syndromes v0.62 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.61 MBD5 Zornitza Stark edited their review of gene: MBD5: Changed phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974
Angelman Rett like syndromes v0.61 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.152 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Autism v0.152 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Autism v0.152 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Autism v0.151 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Autism v0.150 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.149 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726, 33368194, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1100 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Genetic Epilepsy v0.1100 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1100 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Genetic Epilepsy v0.1099 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Genetic Epilepsy v0.1098 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1097 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726, 33368194, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3825 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Intellectual disability syndromic and non-syndromic v0.3825 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3825 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Intellectual disability syndromic and non-syndromic v0.3824 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Intellectual disability syndromic and non-syndromic v0.3823 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3822 IQSEC2 Zornitza Stark edited their review of gene: IQSEC2: Added comment: More than 20 unrelated families reported.; Changed publications: 31415821, 20473311, 30842726, 33368194, 23674175; Changed phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Mendeliome v0.7867 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM#309530 to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Mendeliome v0.7866 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to 31415821; 20473311; 30842726
Mendeliome v0.7865 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.61 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Angelman Rett like syndromes v0.61 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.61 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Angelman Rett like syndromes v0.60 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Angelman Rett like syndromes v0.59 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.58 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3822 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from Kleefstra syndrome 1 (MIM#610253) to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Intellectual disability syndromic and non-syndromic v0.3821 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Intellectual disability syndromic and non-syndromic v0.3820 EHMT1 Zornitza Stark edited their review of gene: EHMT1: Changed publications: 16826528, 19264732, 19293338, 22670143, 30448833
Intellectual disability syndromic and non-syndromic v0.3820 EHMT1 Zornitza Stark commented on gene: EHMT1: Well established gene-disease association. Deletions are common. Key features includeID/seizures/microcephaly/dysmorphism/congenital anomalies. More than 100 individuals reported.
Intellectual disability syndromic and non-syndromic v0.3820 EHMT1 Zornitza Stark edited their review of gene: EHMT1: Changed phenotypes: Kleefstra syndrome 1, MIM# 610253, MONDO:0027407
Congenital Heart Defect v0.109 EHMT1 Zornitza Stark Tag SV/CNV tag was added to gene: EHMT1.
Genetic Epilepsy v0.1097 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Genetic Epilepsy v0.1097 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1097 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Genetic Epilepsy v0.1096 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Genetic Epilepsy v0.1095 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1094 EHMT1 Zornitza Stark Tag SV/CNV tag was added to gene: EHMT1.
Genetic Epilepsy v0.1094 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253, MONDO:0027407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.109 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Congenital Heart Defect v0.109 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.109 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Congenital Heart Defect v0.108 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Congenital Heart Defect v0.107 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.106 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253, MONDO:0027407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Tag SV/CNV tag was added to gene: EHMT1.
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Angelman Rett like syndromes v0.57 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Angelman Rett like syndromes v0.56 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.55 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3820 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625
Intellectual disability syndromic and non-syndromic v0.3819 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to 32160274
Intellectual disability syndromic and non-syndromic v0.3818 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625
Intellectual disability syndromic and non-syndromic v0.3818 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed publications: 24697219, 32196822, 32160274, 32062104, 31893083
Genetic Epilepsy v0.1094 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed publications: 24697219, 32196822, 32160274, 32062104, 31893083
Genetic Epilepsy v0.1094 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to 32160274
Genetic Epilepsy v0.1093 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625
Genetic Epilepsy v0.1092 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625
Mendeliome v0.7865 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625
Mendeliome v0.7864 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to 32160274
Mendeliome v0.7863 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24697219, 32196822, 32160274, 32062104, 31893083; Phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark changed review comment from: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.

Both LoF and GoF postulated.; to: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.

Both LoF and GoF postulated. More than 20 unrelated families.
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625
Angelman Rett like syndromes v0.54 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Angelman Rett like syndromes v0.53 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.52 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625
Angelman Rett like syndromes v0.52 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24697219, 32196822, 32160274, 32062104, 31893083; Phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, Developmental and epileptic encephalopathy 33, MIM# 616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v1.0 Zornitza Stark promoted panel to version 1.0
Blepharophimosis v0.64 POGZ Zornitza Stark Marked gene: POGZ as ready
Blepharophimosis v0.64 POGZ Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence).
Blepharophimosis v0.63 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Blepharophimosis v0.63 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Blepharophimosis v0.63 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 5, MIM# 108145
Blepharophimosis v0.62 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.61 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marden-Walker syndrome, MIM# 248700, Arthrogryposis, distal, type 5, MIM# 108145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.61 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Blepharophimosis v0.61 MYH3 Zornitza Stark Gene: myh3 has been classified as Green List (High Evidence).
Blepharophimosis v0.61 MYH3 Zornitza Stark Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700
Blepharophimosis v0.60 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.59 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.59 MED12 Zornitza Stark Marked gene: MED12 as ready
Blepharophimosis v0.59 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Blepharophimosis v0.59 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked, MIM# 300895
Blepharophimosis v0.58 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Blepharophimosis v0.57 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked, MIM# 300895; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting disorders v0.121 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Clefting disorders v0.121 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Clefting disorders v0.121 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC1; 3MC SYNDROME 1 to 3MC syndrome 1, MIM# 257920; MONDO:0009770
Clefting disorders v0.120 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Clefting disorders v0.119 MASP1 Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106; Phenotypes: 3MC syndrome 1, MIM# 257920, MONDO:0009770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3818 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Intellectual disability syndromic and non-syndromic v0.3818 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3818 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from to 3MC syndrome 1, MIM# 257920; MONDO:0009770
Intellectual disability syndromic and non-syndromic v0.3817 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Intellectual disability syndromic and non-syndromic v0.3816 MASP1 Zornitza Stark Mode of inheritance for gene: MASP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3815 MASP1 Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106; Phenotypes: 3MC syndrome 1, MIM# 257920, MONDO:0009770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7863 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Mendeliome v0.7863 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Mendeliome v0.7863 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from to 3MC syndrome 1, MIM# 257920; MONDO:0009770
Mendeliome v0.7862 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Mendeliome v0.7861 MASP1 Zornitza Stark Mode of inheritance for gene: MASP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7860 MASP1 Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106; Phenotypes: 3MC syndrome 1, MIM# 257920, MONDO:0009770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.57 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Blepharophimosis v0.57 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Blepharophimosis v0.57 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from to 3MC syndrome 1, MIM# 257920; MONDO:0009770
Blepharophimosis v0.56 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Blepharophimosis v0.55 MASP1 Zornitza Stark Mode of inheritance for gene: MASP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.54 MASP1 Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106; Phenotypes: 3MC syndrome 1, MIM# 257920, MONDO:0009770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.54 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Blepharophimosis v0.54 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Blepharophimosis v0.54 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from SBBYSS syndrome, MIM# 603736; MONDO:0011365 to SBBYSS syndrome, MIM# 603736; MONDO:0011365
Blepharophimosis v0.54 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from to SBBYSS syndrome, MIM# 603736; MONDO:0011365
Blepharophimosis v0.53 KAT6B Zornitza Stark Publications for gene: KAT6B were set to
Blepharophimosis v0.52 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.51 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424177; Phenotypes: SBBYSS syndrome, MIM# 603736, MONDO:0011365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3815 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Intellectual disability syndromic and non-syndromic v0.3815 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3815 BRPF1 Zornitza Stark Phenotypes for gene: BRPF1 were changed from to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022
Intellectual disability syndromic and non-syndromic v0.3814 BRPF1 Zornitza Stark Publications for gene: BRPF1 were set to
Intellectual disability syndromic and non-syndromic v0.3813 BRPF1 Zornitza Stark Mode of inheritance for gene: BRPF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3812 BRPF1 Zornitza Stark reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27939640, 27939639, 32652122; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333, MONDO:0015022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7860 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Mendeliome v0.7860 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Mendeliome v0.7860 BRPF1 Zornitza Stark Phenotypes for gene: BRPF1 were changed from to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022
Mendeliome v0.7859 BRPF1 Zornitza Stark Publications for gene: BRPF1 were set to
Mendeliome v0.7858 BRPF1 Zornitza Stark Mode of inheritance for gene: BRPF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7857 BRPF1 Zornitza Stark reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27939640, 27939639; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333, MONDO:0015022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.51 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Blepharophimosis v0.51 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Blepharophimosis v0.51 BRPF1 Zornitza Stark Classified gene: BRPF1 as Green List (high evidence)
Blepharophimosis v0.51 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Blepharophimosis v0.50 BRPF1 Zornitza Stark gene: BRPF1 was added
gene: BRPF1 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRPF1 were set to 27939640; 27939639
Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022
Review for gene: BRPF1 was set to GREEN
Added comment: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures.

At least 10 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3812 POGZ Zornitza Stark Marked gene: POGZ as ready
Intellectual disability syndromic and non-syndromic v0.3812 POGZ Zornitza Stark Gene: pogz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3812 POGZ Zornitza Stark Phenotypes for gene: POGZ were changed from to White-Sutton syndrome, MIM# 616364; MONDO:0014606
Intellectual disability syndromic and non-syndromic v0.3811 POGZ Zornitza Stark Publications for gene: POGZ were set to
Intellectual disability syndromic and non-syndromic v0.3810 POGZ Zornitza Stark Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3809 POGZ Zornitza Stark reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 33098347, 31782611, 26942287; Phenotypes: White-Sutton syndrome, MIM# 616364, MONDO:0014606; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.49 POGZ Zornitza Stark Phenotypes for gene: POGZ were changed from to White-Sutton syndrome, MIM# 616364; MONDO:0014606
Blepharophimosis v0.48 POGZ Zornitza Stark Publications for gene: POGZ were set to
Blepharophimosis v0.47 POGZ Zornitza Stark Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.46 POGZ Zornitza Stark Classified gene: POGZ as Amber List (moderate evidence)
Blepharophimosis v0.46 POGZ Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence).
Blepharophimosis v0.45 POGZ Zornitza Stark reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 33098347, 31782611, 26942287; Phenotypes: White-Sutton syndrome, MIM# 616364, MONDO:0014606; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.105 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to 32376980
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Review for gene: TRAF7 was set to GREEN
Added comment: More than 40 individuals reported with DD/ID and a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent.
Sources: Expert Review
Macrocephaly_Megalencephaly v0.77 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Macrocephaly_Megalencephaly v0.77 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.77 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Macrocephaly_Megalencephaly v0.76 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Macrocephaly_Megalencephaly v0.75 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.74 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376980; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.75 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to 29961569
Deafness_IsolatedAndComplex v1.74 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.74 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.73 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376980; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.45 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Blepharophimosis v0.45 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Mendeliome v0.7857 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Mendeliome v0.7857 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Mendeliome v0.7857 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Mendeliome v0.7856 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Mendeliome v0.7855 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7854 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376980; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.45 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Blepharophimosis v0.44 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to 32376980
Polydactyly v0.197 UBE3B Zornitza Stark Marked gene: UBE3B as ready
Polydactyly v0.197 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Blepharophimosis v0.44 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Blepharophimosis v0.43 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.42 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376980; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.22 UBE3B Zornitza Stark Marked gene: UBE3B as ready
Microcephaly v1.22 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Microcephaly v1.22 UBE3B Zornitza Stark Classified gene: UBE3B as Green List (high evidence)
Microcephaly v1.22 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Polydactyly v0.197 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485 to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Microcephaly v1.21 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3B were set to 23200864; 23200864; 34012380; 32949109
Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Review for gene: UBE3B was set to GREEN
Added comment: Intellectual disability, microcephaly, dysmorphic features, including blepharophimosis and ptosis. Over 20 families reported.
Sources: Expert Review
Polydactyly v0.196 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Polydactyly v0.195 UBE3B Zornitza Stark Publications for gene: UBE3B were set to
Polydactyly v0.194 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450, MONDO:0009485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7854 UBE3B Zornitza Stark Marked gene: UBE3B as ready
Mendeliome v0.7854 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Mendeliome v0.7854 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Mendeliome v0.7853 UBE3B Zornitza Stark Publications for gene: UBE3B were set to
Mendeliome v0.7852 UBE3B Zornitza Stark Mode of inheritance for gene: UBE3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7851 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450, MONDO:0009485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3809 UBE3B Zornitza Stark Marked gene: UBE3B as ready
Intellectual disability syndromic and non-syndromic v0.3809 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3809 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Intellectual disability syndromic and non-syndromic v0.3808 UBE3B Zornitza Stark Publications for gene: UBE3B were set to
Intellectual disability syndromic and non-syndromic v0.3807 UBE3B Zornitza Stark Mode of inheritance for gene: UBE3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3806 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450, MONDO:0009485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.42 UBE3B Zornitza Stark Marked gene: UBE3B as ready
Blepharophimosis v0.42 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Blepharophimosis v0.42 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Blepharophimosis v0.41 UBE3B Zornitza Stark Publications for gene: UBE3B were set to
Blepharophimosis v0.40 UBE3B Zornitza Stark Mode of inheritance for gene: UBE3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.39 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450, MONDO:0009485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Tag SV/CNV tag was added to gene: KANSL1.
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome, MIM# 610443; MONDO:0012496
Angelman Rett like syndromes v0.51 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Angelman Rett like syndromes v0.50 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.49 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19447831, 22544367, 22544363; Phenotypes: Koolen-De Vries syndrome, MIM# 610443, MONDO:0012496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.39 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Blepharophimosis v0.39 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Blepharophimosis v0.39 KANSL1 Zornitza Stark Tag SV/CNV tag was added to gene: KANSL1.
Blepharophimosis v0.39 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome, MIM# 610443 to Koolen-De Vries syndrome, MIM# 610443; MONDO:0012496
Blepharophimosis v0.38 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome, MIM# 610443
Blepharophimosis v0.37 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Blepharophimosis v0.36 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.35 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19447831, 22544367, 22544363; Phenotypes: Koolen-De Vries syndrome, MIM# 610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.35 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Blepharophimosis v0.35 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Blepharophimosis v0.35 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type, MIM# 309590; MONDO:0010407
Blepharophimosis v0.34 HUWE1 Zornitza Stark Publications for gene: HUWE1 were set to
Blepharophimosis v0.33 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Blepharophimosis v0.32 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Blepharophimosis v0.31 HUWE1 Zornitza Stark reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252223, 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type, MIM# 309590, MONDO:0010407; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.274 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Arthrogryposis v0.274 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Arthrogryposis v0.274 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717
Arthrogryposis v0.273 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Arthrogryposis v0.272 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.271 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11101850, 16927315; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7851 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to 16927315
Mendeliome v0.7850 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11101850, 16927315, 11279527; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410, MONDO:0009140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.31 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Blepharophimosis v0.31 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Blepharophimosis v0.31 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717
Blepharophimosis v0.30 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Blepharophimosis v0.29 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.28 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11101850, 16927315; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Marked gene: HLA-DRB1 as ready
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Gene: hla-drb1 has been classified as Red List (Low Evidence).
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Classified gene: HLA-DRB1 as Red List (low evidence)
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Gene: hla-drb1 has been classified as Red List (Low Evidence).
Mendeliome v0.7849 HLA-DRB1 Zornitza Stark reviewed gene: HLA-DRB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7849 HLA-DRA Zornitza Stark Marked gene: HLA-DRA as ready
Mendeliome v0.7849 HLA-DRA Zornitza Stark Gene: hla-dra has been classified as Red List (Low Evidence).
Mendeliome v0.7849 HLA-DRA Zornitza Stark Classified gene: HLA-DRA as Red List (low evidence)
Mendeliome v0.7849 HLA-DRA Zornitza Stark Gene: hla-dra has been classified as Red List (Low Evidence).
Mendeliome v0.7848 HLA-DRA Zornitza Stark reviewed gene: HLA-DRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7848 HLA-C Zornitza Stark Marked gene: HLA-C as ready
Mendeliome v0.7848 HLA-C Zornitza Stark Gene: hla-c has been classified as Red List (Low Evidence).
Mendeliome v0.7848 HLA-C Zornitza Stark Classified gene: HLA-C as Red List (low evidence)
Mendeliome v0.7848 HLA-C Zornitza Stark Gene: hla-c has been classified as Red List (Low Evidence).
Mendeliome v0.7847 HLA-C Zornitza Stark reviewed gene: HLA-C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7847 HLA-B Zornitza Stark Marked gene: HLA-B as ready
Mendeliome v0.7847 HLA-B Zornitza Stark Gene: hla-b has been classified as Red List (Low Evidence).
Mendeliome v0.7847 HLA-B Zornitza Stark Classified gene: HLA-B as Red List (low evidence)
Mendeliome v0.7847 HLA-B Zornitza Stark Gene: hla-b has been classified as Red List (Low Evidence).
Mendeliome v0.7846 HLA-B Zornitza Stark reviewed gene: HLA-B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7846 HLA-A Zornitza Stark Marked gene: HLA-A as ready
Mendeliome v0.7846 HLA-A Zornitza Stark Gene: hla-a has been classified as Red List (Low Evidence).
Mendeliome v0.7846 HLA-A Zornitza Stark Classified gene: HLA-A as Red List (low evidence)
Mendeliome v0.7846 HLA-A Zornitza Stark Gene: hla-a has been classified as Red List (Low Evidence).
Mendeliome v0.7845 HLA-A Zornitza Stark reviewed gene: HLA-A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7845 TAF6 Zornitza Stark Marked gene: TAF6 as ready
Mendeliome v0.7845 TAF6 Zornitza Stark Gene: taf6 has been classified as Green List (High Evidence).
Mendeliome v0.7845 TAF6 Zornitza Stark Phenotypes for gene: TAF6 were changed from to Alazami-Yuan syndrome, MIM# 617126
Mendeliome v0.7844 TAF6 Zornitza Stark Publications for gene: TAF6 were set to
Mendeliome v0.7843 TAF6 Zornitza Stark Mode of inheritance for gene: TAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7842 TAF6 Zornitza Stark reviewed gene: TAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574841, 32030742; Phenotypes: Alazami-Yuan syndrome, MIM# 617126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Marked gene: TAF6 as ready
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Gene: taf6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Phenotypes for gene: TAF6 were changed from Alazami-Yuan syndrome, MIM# 617126 to Alazami-Yuan syndrome, MIM# 617126
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Phenotypes for gene: TAF6 were changed from to Alazami-Yuan syndrome, MIM# 617126
Intellectual disability syndromic and non-syndromic v0.3805 TAF6 Zornitza Stark Publications for gene: TAF6 were set to
Intellectual disability syndromic and non-syndromic v0.3804 TAF6 Zornitza Stark Mode of inheritance for gene: TAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3803 TAF6 Zornitza Stark reviewed gene: TAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574841, 32030742; Phenotypes: Alazami-Yuan syndrome, MIM# 617126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7842 ANGPT2 Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema
Mendeliome v0.7841 ANGPT2 Zornitza Stark edited their review of gene: ANGPT2: Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema
Ocular and Oculocutaneous Albinism v1.0 Zornitza Stark promoted panel to version 1.0
Ocular and Oculocutaneous Albinism v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.7841 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Mendeliome v0.7841 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Mendeliome v0.7841 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from to Albinism, oculocutaneous, type VI, MIM# 113750
Mendeliome v0.7840 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Mendeliome v0.7839 SLC24A5 Zornitza Stark Mode of inheritance for gene: SLC24A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from to Albinism, oculocutaneous, type VI, MIM# 113750
Mendeliome v0.7838 SLC24A5 Zornitza Stark reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI, MIM# 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.60 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to
Ocular and Oculocutaneous Albinism v0.59 SLC24A5 Zornitza Stark Mode of inheritance for gene: SLC24A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.58 SLC24A5 Zornitza Stark reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI, MIM# 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7838 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Mendeliome v0.7838 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Mendeliome v0.7838 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Mendeliome v0.7837 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Mendeliome v0.7836 SLC45A2 Zornitza Stark Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7835 SLC45A2 Zornitza Stark reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Ocular and Oculocutaneous Albinism v0.57 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Ocular and Oculocutaneous Albinism v0.56 SLC45A2 Zornitza Stark Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.55 SLC45A2 Zornitza Stark reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7835 TYR Zornitza Stark Marked gene: TYR as ready
Mendeliome v0.7835 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Mendeliome v0.7835 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952
Mendeliome v0.7834 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7833 TYR Zornitza Stark reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, MONDO:0008745, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Marked gene: TYR as ready
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952
Ocular and Oculocutaneous Albinism v0.54 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.53 TYR Zornitza Stark reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7833 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Mendeliome v0.7833 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Mendeliome v0.7833 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Mendeliome v0.7832 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Mendeliome v0.7831 TYRP1 Zornitza Stark Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7830 TYRP1 Zornitza Stark reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Ocular and Oculocutaneous Albinism v0.52 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Ocular and Oculocutaneous Albinism v0.51 TYRP1 Zornitza Stark Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.50 TYRP1 Zornitza Stark reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7830 MC1R Zornitza Stark Marked gene: MC1R as ready
Mendeliome v0.7830 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7830 MC1R Zornitza Stark Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200
Mendeliome v0.7829 MC1R Zornitza Stark Publications for gene: MC1R were set to
Mendeliome v0.7828 MC1R Zornitza Stark Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7827 MC1R Zornitza Stark Classified gene: MC1R as Amber List (moderate evidence)
Mendeliome v0.7827 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7826 MC1R Zornitza Stark reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Marked gene: MC1R as ready
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200
Ocular and Oculocutaneous Albinism v0.49 MC1R Zornitza Stark Publications for gene: MC1R were set to
Ocular and Oculocutaneous Albinism v0.48 MC1R Zornitza Stark Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.47 MC1R Zornitza Stark Classified gene: MC1R as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v0.47 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.46 MC1R Zornitza Stark reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Marked gene: LYST as ready
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500
Ocular and Oculocutaneous Albinism v0.45 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.44 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM# 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7826 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Mendeliome v0.7826 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Mendeliome v0.7826 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Mendeliome v0.7825 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Mendeliome v0.7824 LRMDA Zornitza Stark Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7823 LRMDA Zornitza Stark reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Ocular and Oculocutaneous Albinism v0.43 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Ocular and Oculocutaneous Albinism v0.42 LRMDA Zornitza Stark Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.41 LRMDA Zornitza Stark reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019
Ocular and Oculocutaneous Albinism v0.40 GPR143 Zornitza Stark Publications for gene: GPR143 were set to
Ocular and Oculocutaneous Albinism v0.39 GPR143 Zornitza Stark Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ocular and Oculocutaneous Albinism v0.38 GPR143 Zornitza Stark reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 7647783, 9529334, 11793467; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Marked gene: SLC4A4 as ready
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Gene: slc4a4 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Classified gene: SLC4A4 as Green List (high evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Gene: slc4a4 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.48 SLC4A4 Bryony Thompson gene: SLC4A4 was added
gene: SLC4A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 20798035; 33439394
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278; hemiplegic migraine
Review for gene: SLC4A4 was set to GREEN
Added comment: At least 3 homozygous cases/families (1 isolated case & 2 consanguineous families) with hemiplegic migraine along with renal tubular acidosis, and supporting functional evidence demonstrating loss of protein activity. An additional 3 homozygous cases also reported with migraine with or without aura.
Sources: Literature
Alternating Hemiplegia and Hemiplegic Migraine v0.47 SLC1A3 Bryony Thompson Classified gene: SLC1A3 as Green List (high evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.47 SLC1A3 Bryony Thompson Gene: slc1a3 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.46 SLC1A3 Bryony Thompson reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29066757, 32754645, 16116111; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating Hemiplegia and Hemiplegic Migraine v0.46 PRRT2 Bryony Thompson Classified gene: PRRT2 as Green List (high evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.46 PRRT2 Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.45 PRRT2 Bryony Thompson reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23077016, 23077026, 26598493, 26598494, 33126500; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.7823 SERPINF2 Zornitza Stark Marked gene: SERPINF2 as ready
Mendeliome v0.7823 SERPINF2 Zornitza Stark Gene: serpinf2 has been classified as Green List (High Evidence).
Mendeliome v0.7823 SERPINF2 Zornitza Stark Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Mendeliome v0.7822 SERPINF2 Zornitza Stark Publications for gene: SERPINF2 were set to
Mendeliome v0.7821 SERPINF2 Zornitza Stark Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7820 SERPINF2 Zornitza Stark reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Marked gene: SERPINF2 as ready
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Gene: serpinf2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Bleeding and Platelet Disorders v0.306 SERPINF2 Zornitza Stark Publications for gene: SERPINF2 were set to
Bleeding and Platelet Disorders v0.305 SERPINF2 Zornitza Stark Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.304 SERPINF2 Zornitza Stark reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7820 SERPINE1 Zornitza Stark Marked gene: SERPINE1 as ready
Mendeliome v0.7820 SERPINE1 Zornitza Stark Gene: serpine1 has been classified as Green List (High Evidence).
Mendeliome v0.7820 SERPINE1 Zornitza Stark Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Mendeliome v0.7819 SERPINE1 Zornitza Stark Publications for gene: SERPINE1 were set to
Mendeliome v0.7818 SERPINE1 Zornitza Stark Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.7817 SERPINE1 Zornitza Stark reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Marked gene: SERPINE1 as ready
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Gene: serpine1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Bleeding and Platelet Disorders v0.303 SERPINE1 Zornitza Stark Publications for gene: SERPINE1 were set to
Bleeding and Platelet Disorders v0.302 SERPINE1 Zornitza Stark Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.301 SERPINE1 Zornitza Stark reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.7817 TBXA2R Zornitza Stark Marked gene: TBXA2R as ready
Mendeliome v0.7817 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7817 TBXA2R Zornitza Stark Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009
Mendeliome v0.7816 TBXA2R Zornitza Stark Publications for gene: TBXA2R were set to
Mendeliome v0.7815 TBXA2R Zornitza Stark Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7814 TBXA2R Zornitza Stark Classified gene: TBXA2R as Amber List (moderate evidence)
Mendeliome v0.7814 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7813 TBXA2R Zornitza Stark reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Marked gene: TBXA2R as ready
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009
Bleeding and Platelet Disorders v0.300 TBXA2R Zornitza Stark Publications for gene: TBXA2R were set to
Bleeding and Platelet Disorders v0.299 TBXA2R Zornitza Stark Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.298 TBXA2R Zornitza Stark Classified gene: TBXA2R as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.298 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.297 TBXA2R Zornitza Stark reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.224 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from Bleeding disorder, platelet-type, 8 MIM# 609821 to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Additional findings_Paediatric v0.223 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Additional findings_Paediatric v0.222 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.221 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7813 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Mendeliome v0.7813 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Mendeliome v0.7813 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Mendeliome v0.7812 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Mendeliome v0.7811 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7810 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Bleeding and Platelet Disorders v0.296 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Bleeding and Platelet Disorders v0.295 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark changed review comment from: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.; to: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.

Families with bi-allelic and mono-allelic disease reported. Dominant negative mechanism proposed for mono-allelic disease.
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark edited their review of gene: P2RY12: Changed publications: 11196645, 12578987, 29117459, 19237732; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark edited their review of gene: P2RY12: Changed phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7810 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Mendeliome v0.7810 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Mendeliome v0.7810 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Mendeliome v0.7809 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Mendeliome v0.7808 MCFD2 Zornitza Stark Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7807 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Bleeding and Platelet Disorders v0.293 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Bleeding and Platelet Disorders v0.292 MCFD2 Zornitza Stark Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.291 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077,; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7807 LMAN1 Zornitza Stark Marked gene: LMAN1 as ready
Mendeliome v0.7807 LMAN1 Zornitza Stark Gene: lman1 has been classified as Green List (High Evidence).
Mendeliome v0.7807 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206
Mendeliome v0.7806 LMAN1 Zornitza Stark Publications for gene: LMAN1 were set to
Mendeliome v0.7805 LMAN1 Zornitza Stark Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7804 LMAN1 Zornitza Stark reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300, MONDO:0009206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.291 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, MIM# 227300 to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Marked gene: LMAN1 as ready
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Gene: lman1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300
Bleeding and Platelet Disorders v0.289 LMAN1 Zornitza Stark Publications for gene: LMAN1 were set to
Bleeding and Platelet Disorders v0.288 LMAN1 Zornitza Stark Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 LMAN1 Zornitza Stark reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7804 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Mendeliome v0.7804 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Mendeliome v0.7804 ITGA2B Zornitza Stark Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800
Mendeliome v0.7803 ITGA2B Zornitza Stark Publications for gene: ITGA2B were set to
Mendeliome v0.7802 ITGA2B Zornitza Stark Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark changed review comment from: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.

Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.; to: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.

Glanzmann thrombasthaenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.
Mendeliome v0.7801 ITGA2B Zornitza Stark reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800
Bleeding and Platelet Disorders v0.286 ITGA2B Zornitza Stark Publications for gene: ITGA2B were set to
Bleeding and Platelet Disorders v0.285 ITGA2B Zornitza Stark Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.284 ITGA2B Zornitza Stark reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7801 LMOD1 Zornitza Stark Marked gene: LMOD1 as ready
Mendeliome v0.7801 LMOD1 Zornitza Stark Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7801 LMOD1 Zornitza Stark Phenotypes for gene: LMOD1 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Mendeliome v0.7800 LMOD1 Zornitza Stark Publications for gene: LMOD1 were set to
Mendeliome v0.7799 LMOD1 Zornitza Stark Mode of inheritance for gene: LMOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7798 LMOD1 Zornitza Stark Classified gene: LMOD1 as Amber List (moderate evidence)
Mendeliome v0.7798 LMOD1 Zornitza Stark Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7797 LMOD1 Zornitza Stark reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.37 LMOD1 Zornitza Stark Phenotypes for gene: LMOD1 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Gastrointestinal neuromuscular disease v0.36 LMOD1 Zornitza Stark reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.282 POU4F1 Bryony Thompson Marked gene: POU4F1 as ready
Ataxia v0.282 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Ataxia v0.282 POU4F1 Bryony Thompson Classified gene: POU4F1 as Green List (high evidence)
Ataxia v0.282 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Ataxia v0.281 POU4F1 Bryony Thompson gene: POU4F1 was added
gene: POU4F1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU4F1 were set to 33783914; 8876243
Phenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia
Review for gene: POU4F1 was set to GREEN
Added comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model.
Sources: Literature
Mendeliome v0.7797 POU4F1 Bryony Thompson Marked gene: POU4F1 as ready
Mendeliome v0.7797 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Mendeliome v0.7797 POU4F1 Bryony Thompson Classified gene: POU4F1 as Green List (high evidence)
Mendeliome v0.7797 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Mendeliome v0.7796 POU4F1 Bryony Thompson gene: POU4F1 was added
gene: POU4F1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU4F1 were set to 33783914; 8876243
Phenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia
Review for gene: POU4F1 was set to GREEN
Added comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model.
Sources: Literature
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Ocular and Oculocutaneous Albinism v0.37 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Ocular and Oculocutaneous Albinism v0.36 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.35 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7795 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Mendeliome v0.7795 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Mendeliome v0.7795 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Mendeliome v0.7794 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Mendeliome v0.7793 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Mendeliome v0.7792 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.283 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Bleeding and Platelet Disorders v0.282 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.281 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Ocular and Oculocutaneous Albinism v0.34 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Ocular and Oculocutaneous Albinism v0.33 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.32 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7792 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Mendeliome v0.7792 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Mendeliome v0.7792 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Mendeliome v0.7791 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Mendeliome v0.7790 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7789 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.280 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Bleeding and Platelet Disorders v0.279 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.278 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Ocular and Oculocutaneous Albinism v0.31 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Ocular and Oculocutaneous Albinism v0.30 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.29 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7789 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Mendeliome v0.7789 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Mendeliome v0.7789 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Mendeliome v0.7788 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Mendeliome v0.7787 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7786 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Bleeding and Platelet Disorders v0.277 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Bleeding and Platelet Disorders v0.276 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.276 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS3 Zornitza Stark edited their review of gene: HPS3: Added comment: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.

Well established gene-disease association.; Changed phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555
Bleeding and Platelet Disorders v0.275 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Ocular and Oculocutaneous Albinism v0.28 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Ocular and Oculocutaneous Albinism v0.27 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Ocular and Oculocutaneous Albinism v0.26 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7786 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Mendeliome v0.7786 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Mendeliome v0.7786 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Mendeliome v0.7785 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Mendeliome v0.7784 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7783 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.274 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Bleeding and Platelet Disorders v0.273 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.272 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7783 GP9 Zornitza Stark Marked gene: GP9 as ready
Mendeliome v0.7783 GP9 Zornitza Stark Gene: gp9 has been classified as Green List (High Evidence).
Mendeliome v0.7783 GP9 Zornitza Stark Phenotypes for gene: GP9 were changed from to Bernard-Soulier syndrome, type C, MIM# 231200
Mendeliome v0.7782 GP9 Zornitza Stark Publications for gene: GP9 were set to
Mendeliome v0.7781 GP9 Zornitza Stark Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7780 GP9 Zornitza Stark reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428, 33553065, 32030720, 31484196; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Marked gene: GP9 as ready
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Gene: gp9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Phenotypes for gene: GP9 were changed from to Bernard-Soulier syndrome, type C, MIM# 231200
Bleeding and Platelet Disorders v0.271 GP9 Zornitza Stark Publications for gene: GP9 were set to
Bleeding and Platelet Disorders v0.270 GP9 Zornitza Stark Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.269 GP9 Zornitza Stark edited their review of gene: GP9: Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.

At least 3 unrelated families reported, animal model.; Changed publications: 8049428, 33553065, 32030720, 31484196
Bleeding and Platelet Disorders v0.269 GP9 Zornitza Stark reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7780 GP6 Zornitza Stark Marked gene: GP6 as ready
Mendeliome v0.7780 GP6 Zornitza Stark Gene: gp6 has been classified as Green List (High Evidence).
Mendeliome v0.7780 GP6 Zornitza Stark Phenotypes for gene: GP6 were changed from to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Mendeliome v0.7779 GP6 Zornitza Stark Publications for gene: GP6 were set to
Mendeliome v0.7778 GP6 Zornitza Stark Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7777 GP6 Zornitza Stark reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Marked gene: GP6 as ready
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Gene: gp6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Phenotypes for gene: GP6 were changed from to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Bleeding and Platelet Disorders v0.268 GP6 Zornitza Stark Publications for gene: GP6 were set to 19549989; 19552682; 23815599
Bleeding and Platelet Disorders v0.268 GP6 Zornitza Stark Publications for gene: GP6 were set to
Bleeding and Platelet Disorders v0.267 GP6 Zornitza Stark Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.266 GP6 Zornitza Stark reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7777 GP1BB Zornitza Stark Marked gene: GP1BB as ready
Mendeliome v0.7777 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
Mendeliome v0.7777 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
Mendeliome v0.7776 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
Mendeliome v0.7775 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7774 GP1BB Zornitza Stark reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Marked gene: GP1BB as ready
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
Bleeding and Platelet Disorders v0.265 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
Bleeding and Platelet Disorders v0.264 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.263 GP1BB Zornitza Stark reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Marked gene: FGG as ready
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Gene: fgg has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Phenotypes for gene: FGG were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Bleeding and Platelet Disorders v0.262 FGG Zornitza Stark Publications for gene: FGG were set to
Bleeding and Platelet Disorders v0.261 FGG Zornitza Stark Mode of inheritance for gene: FGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.260 FGG Zornitza Stark reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001902, 11001903, 3337908; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7774 CREB3L3 Zornitza Stark Marked gene: CREB3L3 as ready
Mendeliome v0.7774 CREB3L3 Zornitza Stark Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7774 CREB3L3 Zornitza Stark Phenotypes for gene: CREB3L3 were changed from Hyperlipidaemia; hypertriglyceridemia to Hypertriglyceridaemia-2, MIM#619324
Mendeliome v0.7773 CREB3L3 Zornitza Stark reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridaemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.22 CREB3L3 Zornitza Stark Phenotypes for gene: CREB3L3 were changed from Hypertriglyceridaemia to Hypertriglyceridaemia-2, MIM#619324
Dyslipidaemia v0.21 CREB3L3 Zornitza Stark Publications for gene: CREB3L3 were set to
Dyslipidaemia v0.20 CREB3L3 Zornitza Stark reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Hereditary Neuropathy v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.111 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3802 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Deafness_IsolatedAndComplex v1.73 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Deafness_IsolatedAndComplex v1.72 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Cataract v0.278 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Cataract v0.277 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v0.7773 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v0.7772 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v0.7772 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Feafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Genetic Epilepsy v0.1092 SCN9A Elena Savva reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33216760; Phenotypes: monogenic human epilepsy disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7772 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Mendeliome v0.7772 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Mendeliome v0.7772 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350; Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Mendeliome v0.7771 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7770 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350, Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.9 SCNN1B Zornitza Stark Classified gene: SCNN1B as Amber List (moderate evidence)
Ciliary Dyskinesia v1.9 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.8 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7770 FGB Zornitza Stark Marked gene: FGB as ready
Mendeliome v0.7770 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Mendeliome v0.7770 FGB Zornitza Stark Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenaemia, congenital, MIM# 616004
Mendeliome v0.7769 FGB Zornitza Stark Publications for gene: FGB were set to
Mendeliome v0.7768 FGB Zornitza Stark Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7767 FGB Zornitza Stark changed review comment from: Inherited disorders of fibrinogen affect either the quantity (afibrinogenaemia and hypofibrinogenaemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both.

Afibrinogenaemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenaemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. First-trimester pregnancy loss is common. Both arterial and venous thromboembolic complications have been reported. Hypofibrinogenaemia is a milder disorder. Well established gene-disease association.; to: Inherited disorders of fibrinogen affect either the quantity (afibrinogenaemia and hypofibrinogenaemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both.

Afibrinogenaemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenaemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. First-trimester pregnancy loss is common. Both arterial and venous thromboembolic complications have been reported. Hypofibrinogenaemia is a milder disorder.

Well established gene-disease association.
Mendeliome v0.7767 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenaemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Marked gene: FGB as ready
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Bleeding and Platelet Disorders v0.259 FGB Zornitza Stark Publications for gene: FGB were set to
Bleeding and Platelet Disorders v0.258 FGB Zornitza Stark Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.257 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7767 F9 Zornitza Stark Marked gene: F9 as ready
Mendeliome v0.7767 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Mendeliome v0.7767 F9 Zornitza Stark Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807
Mendeliome v0.7766 F9 Zornitza Stark Publications for gene: F9 were set to
Mendeliome v0.7765 F9 Zornitza Stark Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7764 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.257 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432
Bleeding and Platelet Disorders v0.256 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Marked gene: F9 as ready
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807
Bleeding and Platelet Disorders v0.254 F9 Zornitza Stark Publications for gene: F9 were set to
Bleeding and Platelet Disorders v0.253 F9 Zornitza Stark Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.252 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7764 F8 Zornitza Stark Marked gene: F8 as ready
Mendeliome v0.7764 F8 Zornitza Stark Gene: f8 has been classified as Green List (High Evidence).
Mendeliome v0.7764 F8 Zornitza Stark Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700; MONDO:0010602
Mendeliome v0.7763 F8 Zornitza Stark Publications for gene: F8 were set to
Mendeliome v0.7762 F8 Zornitza Stark Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7761 F8 Zornitza Stark reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700, MONDO:0010602; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.252 F8 Zornitza Stark Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700 to Haemophilia A, MIM# 306700; MONDO:0010602
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Marked gene: F8 as ready
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Gene: f8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700
Bleeding and Platelet Disorders v0.250 F8 Zornitza Stark Publications for gene: F8 were set to
Bleeding and Platelet Disorders v0.249 F8 Zornitza Stark Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.248 F8 Zornitza Stark reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7761 F7 Zornitza Stark Marked gene: F7 as ready
Mendeliome v0.7761 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Mendeliome v0.7761 F7 Zornitza Stark Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211
Mendeliome v0.7760 F7 Zornitza Stark Publications for gene: F7 were set to
Mendeliome v0.7759 F7 Zornitza Stark Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7758 F7 Zornitza Stark reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Marked gene: F7 as ready
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211
Bleeding and Platelet Disorders v0.247 F7 Zornitza Stark Publications for gene: F7 were set to
Bleeding and Platelet Disorders v0.246 F7 Zornitza Stark Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.245 F7 Zornitza Stark reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7758 F5 Zornitza Stark Marked gene: F5 as ready
Mendeliome v0.7758 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Mendeliome v0.7758 F5 Zornitza Stark Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Mendeliome v0.7757 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7756 F5 Zornitza Stark reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Marked gene: F5 as ready
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Bleeding and Platelet Disorders v0.244 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.243 F5 Zornitza Stark reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Mendeliome v0.7756 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Mendeliome v0.7756 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Mendeliome v0.7756 F13A1 Zornitza Stark Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Mendeliome v0.7755 F13A1 Zornitza Stark Publications for gene: F13A1 were set to
Mendeliome v0.7754 F13A1 Zornitza Stark Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7753 F13A1 Zornitza Stark reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.242 F13A1 Zornitza Stark Publications for gene: F13A1 were set to
Bleeding and Platelet Disorders v0.241 F13A1 Zornitza Stark Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.240 F13A1 Zornitza Stark reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7753 F10 Zornitza Stark Marked gene: F10 as ready
Mendeliome v0.7753 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Mendeliome v0.7753 F10 Zornitza Stark Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212
Mendeliome v0.7752 F10 Zornitza Stark Publications for gene: F10 were set to
Mendeliome v0.7751 F10 Zornitza Stark Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7750 F10 Zornitza Stark Deleted their comment
Mendeliome v0.7750 F10 Zornitza Stark commented on gene: F10: Factor X deficiency shows variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally haemarthrosis. More than 20 unrelated families reported.
Mendeliome v0.7750 F10 Zornitza Stark reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Marked gene: F10 as ready
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212
Bleeding and Platelet Disorders v0.239 F10 Zornitza Stark Publications for gene: F10 were set to
Bleeding and Platelet Disorders v0.238 F10 Zornitza Stark Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.237 F10 Zornitza Stark edited their review of gene: F10: Changed phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212
Bleeding and Platelet Disorders v0.237 F10 Zornitza Stark reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark Gene: mcm7 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark gene: MCM7 was added
gene: MCM7 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to RED
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Microcephaly v1.20 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Microcephaly v1.20 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.20 MCM7 Zornitza Stark Classified gene: MCM7 as Amber List (moderate evidence)
Microcephaly v1.20 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.19 MCM7 Zornitza Stark gene: MCM7 was added
gene: MCM7 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to AMBER
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Mendeliome v0.7750 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Mendeliome v0.7750 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7750 MCM7 Zornitza Stark Classified gene: MCM7 as Amber List (moderate evidence)
Mendeliome v0.7750 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7749 MCM7 Arina Puzriakova gene: MCM7 was added
gene: MCM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to AMBER
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present.
------
Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment.
Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Ocular and Oculocutaneous Albinism v0.25 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Ocular and Oculocutaneous Albinism v0.24 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.23 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7749 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Mendeliome v0.7749 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Mendeliome v0.7749 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Mendeliome v0.7748 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Mendeliome v0.7747 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7746 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7, MIM# 614076 to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Bleeding and Platelet Disorders v0.236 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076
Bleeding and Platelet Disorders v0.235 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Bleeding and Platelet Disorders v0.234 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.233 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.194 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Polydactyly v0.194 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Polydactyly v0.194 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome, MIM# 175700; Pallister-Hall syndrome, MIM# 146510; Polydactyly, postaxial, types A1 and B, MIM# 174200; Polydactyly, preaxial, type IV, MIM# 174700
Polydactyly v0.193 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Polydactyly v0.192 GLI3 Arina Puzriakova reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32591344; Phenotypes: Greig cephalopolysyndactyly syndrome, MIM# 175700, Pallister-Hall syndrome, MIM# 146510, Polydactyly, postaxial, types A1 and B, MIM# 174200, Polydactyly, preaxial, type IV, MIM# 174700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Ocular and Oculocutaneous Albinism v0.22 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Ocular and Oculocutaneous Albinism v0.21 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.20 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7746 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Mendeliome v0.7746 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Mendeliome v0.7746 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Mendeliome v0.7745 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Mendeliome v0.7744 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7743 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8, MIM# 614077 to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Bleeding and Platelet Disorders v0.232 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077
Bleeding and Platelet Disorders v0.231 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Bleeding and Platelet Disorders v0.230 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Ocular and Oculocutaneous Albinism v0.19 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Ocular and Oculocutaneous Albinism v0.18 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.17 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Mendeliome v0.7743 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Mendeliome v0.7743 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Mendeliome v0.7743 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Mendeliome v0.7742 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Mendeliome v0.7741 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7740 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Bleeding and Platelet Disorders v0.228 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Bleeding and Platelet Disorders v0.228 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Bleeding and Platelet Disorders v0.227 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.221 Zornitza Stark removed gene:TGFBR3 from the panel
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.193 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.192 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 LHCGR Zornitza Stark reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.206 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Differences of Sex Development v0.206 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Differences of Sex Development v0.206 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Precocious puberty, male, (MIM#176410)
Differences of Sex Development v0.205 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Differences of Sex Development v0.204 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.203 LHCGR Zornitza Stark reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320), Precocious puberty, male, (MIM#176410); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7740 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Mendeliome v0.7740 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Mendeliome v0.7740 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Precocious puberty, male, (MIM#176410)
Mendeliome v0.7739 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Mendeliome v0.7738 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.36 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.35 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.34 MYH11 Zornitza Stark edited their review of gene: MYH11: Changed phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome
Mendeliome v0.7737 NEB Zornitza Stark Publications for gene: NEB were set to 25205138
Mendeliome v0.7736 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive 256030 to Nemaline myopathy 2, autosomal recessive 256030; MONDO:0009725; Arthrogryposis multiplex congenita 6, MIM# 619334
Arthrogryposis v0.271 NEB Zornitza Stark Marked gene: NEB as ready
Arthrogryposis v0.271 NEB Zornitza Stark Gene: neb has been classified as Green List (High Evidence).
Arthrogryposis v0.271 NEB Zornitza Stark Phenotypes for gene: NEB were changed from to Arthrogryposis multiplex congenita 6, MIM# 619334
Mendeliome v0.7735 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.270 NEB Zornitza Stark Publications for gene: NEB were set to
Arthrogryposis v0.269 NEB Zornitza Stark Mode of inheritance for gene: NEB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.268 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7735 LHCGR Ain Roesley reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320), Precocious puberty, male, (MIM#176410); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7735 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Mendeliome v0.7735 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Mendeliome v0.7735 GEMIN5 Zornitza Stark Classified gene: GEMIN5 as Green List (high evidence)
Mendeliome v0.7735 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Mendeliome v0.7734 GEMIN5 Zornitza Stark gene: GEMIN5 was added
gene: GEMIN5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Classified gene: GEMIN5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3800 GEMIN5 Zornitza Stark gene: GEMIN5 was added
gene: GEMIN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy.

30 individuals from 22 unrelated families reported.
Sources: Literature
Mendeliome v0.7733 ANO6 Zornitza Stark Marked gene: ANO6 as ready
Mendeliome v0.7733 ANO6 Zornitza Stark Gene: ano6 has been classified as Green List (High Evidence).
Mendeliome v0.7733 ANO6 Zornitza Stark Phenotypes for gene: ANO6 were changed from to Scott syndrome, MIM# 262890; MONDO:0009885
Mendeliome v0.7732 ANO6 Zornitza Stark Publications for gene: ANO6 were set to
Mendeliome v0.7731 ANO6 Zornitza Stark Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7730 ANO6 Zornitza Stark reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark edited their review of gene: ANO6: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Marked gene: ANO6 as ready
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Gene: ano6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Phenotypes for gene: ANO6 were changed from to Scott syndrome, MIM# 262890; MONDO:0009885
Bleeding and Platelet Disorders v0.225 ANO6 Zornitza Stark Publications for gene: ANO6 were set to
Bleeding and Platelet Disorders v0.224 ANO6 Zornitza Stark Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.223 ANO6 Zornitza Stark edited their review of gene: ANO6: Changed phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885
Bleeding and Platelet Disorders v0.223 ANO6 Zornitza Stark reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890; Mode of inheritance: None
Hypertension and Aldosterone disorders v1.0 Zornitza Stark promoted panel to version 1.0
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Marked gene: WNK4 as ready
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, MIM# 614491
Hypertension and Aldosterone disorders v0.48 WNK4 Zornitza Stark Publications for gene: WNK4 were set to
Hypertension and Aldosterone disorders v0.47 WNK4 Zornitza Stark Mode of inheritance for gene: WNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.46 WNK4 Zornitza Stark reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 31044551; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM# 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Phenotypes for gene: SCNN1G were changed from to Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350
Hypertension and Aldosterone disorders v0.45 SCNN1G Zornitza Stark Mode of inheritance for gene: SCNN1G was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.44 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 2, MIM# 618114, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350
Hypertension and Aldosterone disorders v0.43 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.42 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.74 TRIO Zornitza Stark Marked gene: TRIO as ready
Macrocephaly_Megalencephaly v0.74 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.74 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.73 TRIO Zornitza Stark Classified gene: TRIO as Green List (high evidence)
Macrocephaly_Megalencephaly v0.73 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.105 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Early-onset Parkinson disease v0.105 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.105 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset MIM#605909
Early-onset Parkinson disease v0.104 PINK1 Zornitza Stark Publications for gene: PINK1 were set to
Early-onset Parkinson disease v0.103 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.72 TRIO Elena Savva commented on gene: TRIO: LOF = microcephaly, GOF = macrocephaly

PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly

PTCs = LOF

PMID: 32109419 - 7/9 patients with global dev delay also had macrocephaly
Macrocephaly_Megalencephaly v0.72 TRIO Elena Savva gene: TRIO was added
gene: TRIO was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIO were set to PMID: 32109419; 28928363
Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825
Mode of pathogenicity for gene: TRIO was set to Other
Review for gene: TRIO was set to GREEN
Added comment: LOF = microcephaly, GOF = macrocephaly

PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly

PTCs = LOF
Sources: Literature
Early-onset Parkinson disease v0.102 PINK1 Elena Savva reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28980524; Phenotypes: Parkinson disease 6, early onset MIM#605909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7730 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Mendeliome v0.7730 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Mendeliome v0.7730 KLHL3 Zornitza Stark Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, MIM# 614495
Mendeliome v0.7729 KLHL3 Zornitza Stark Publications for gene: KLHL3 were set to
Mendeliome v0.7728 KLHL3 Zornitza Stark Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7727 KLHL3 Zornitza Stark reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, MIM# 614495
Hypertension and Aldosterone disorders v0.41 KLHL3 Zornitza Stark Publications for gene: KLHL3 were set to
Hypertension and Aldosterone disorders v0.40 KLHL3 Zornitza Stark Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.39 KLHL3 Zornitza Stark reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7727 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Mendeliome v0.7727 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Mendeliome v0.7727 KCNJ5 Zornitza Stark Classified gene: KCNJ5 as Green List (high evidence)
Mendeliome v0.7727 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Mendeliome v0.7726 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ5 were set to 21311022; 22203740; 24420545; 24574546
Phenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677
Review for gene: KCNJ5 was set to GREEN
Added comment: Association with hyperaldosteronism: At least 5 unrelated families reported.

Association with Long QT: disputed.
Sources: Expert Review
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, MIM# 613677
Incidentalome v0.68 Zornitza Stark removed gene:KCNJ5 from the panel
Hypertension and Aldosterone disorders v0.38 KCNJ5 Zornitza Stark Publications for gene: KCNJ5 were set to
Hypertension and Aldosterone disorders v0.37 KCNJ5 Zornitza Stark Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.36 KCNJ5 Zornitza Stark reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21311022, 22203740, 24420545, 24574546]; Phenotypes: Hyperaldosteronism, familial, type III, MIM# 613677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7725 HSD11B2 Zornitza Stark Marked gene: HSD11B2 as ready
Mendeliome v0.7725 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Mendeliome v0.7725 HSD11B2 Zornitza Stark Phenotypes for gene: HSD11B2 were changed from to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Mendeliome v0.7724 HSD11B2 Zornitza Stark Publications for gene: HSD11B2 were set to
Mendeliome v0.7723 HSD11B2 Zornitza Stark Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7722 HSD11B2 Zornitza Stark reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Marked gene: HSD11B2 as ready
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Phenotypes for gene: HSD11B2 were changed from to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Hypertension and Aldosterone disorders v0.35 HSD11B2 Zornitza Stark Publications for gene: HSD11B2 were set to
Hypertension and Aldosterone disorders v0.34 HSD11B2 Zornitza Stark Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.33 HSD11B2 Zornitza Stark reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7722 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Mendeliome v0.7722 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Mendeliome v0.7722 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM# 615651; Hyperaldosteronism, familial, type II, MIM# 605635
Mendeliome v0.7721 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Mendeliome v0.7720 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7719 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29403011, 29403012, 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM# 615651, Hyperaldosteronism, familial, type II, MIM# 605635; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Hyperaldosteronism, familial, type II 605635
Hypertension and Aldosterone disorders v0.32 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.

Note bi-allelic variants cause a different phenotype.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark edited their review of gene: CLCN2: Changed publications: 29403011, 29403012
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark commented on gene: CLCN2: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7719 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Mendeliome v0.7719 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Mendeliome v0.7719 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200; Sinoatrial node dysfunction and deafness, MIM# 614896
Mendeliome v0.7718 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Mendeliome v0.7717 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7716 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561, 21131953, 15357422, 22678062; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200, Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200
Hypertension and Aldosterone disorders v0.29 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Hypertension and Aldosterone disorders v0.28 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.27 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.149 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Autism v0.149 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Red List (Low Evidence).
Autism v0.149 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Autism spectrum disorder
Autism v0.148 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Autism v0.147 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.146 CACNA1H Zornitza Stark Classified gene: CACNA1H as Red List (low evidence)
Autism v0.146 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Red List (Low Evidence).
Mendeliome v0.7716 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Mendeliome v0.7716 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Green List (High Evidence).
Mendeliome v0.7716 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875
Mendeliome v0.7715 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Mendeliome v0.7714 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7713 CACNA1H Zornitza Stark reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: None; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027, MONDO:0014875; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.27 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from Hyperaldosteronism, familial, type IV MIM#617027 to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV MIM#617027
Hypertension and Aldosterone disorders v0.25 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Hypertension and Aldosterone disorders v0.24 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.630 COX16 Zornitza Stark Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Mitochondrial disease v0.629 COX16 Zornitza Stark reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7713 COX16 Zornitza Stark Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Mendeliome v0.7712 COX16 Zornitza Stark reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3799 NSF Zornitza Stark Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3798 NSF Zornitza Stark edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability
Genetic Epilepsy v0.1092 NSF Zornitza Stark Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Genetic Epilepsy v0.1091 NSF Zornitza Stark edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability
Mendeliome v0.7712 NSF Zornitza Stark Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Mendeliome v0.7711 NSF Zornitza Stark edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.80 IPO8 Zornitza Stark gene: IPO8 was added
gene: IPO8 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Review for gene: IPO8 was set to GREEN
Added comment: 12 individuals from 9 unrelated families in a cohort with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.34 IPO8 Zornitza Stark Publications for gene: IPO8 were set to
Aortopathy_Connective Tissue Disorders v1.33 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.33 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.32 IPO8 Zornitza Stark reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34010604; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7711 IPO8 Zornitza Stark Publications for gene: IPO8 were set to
Mendeliome v0.7710 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Mendeliome v0.7710 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Mendeliome v0.7709 IPO8 Zornitza Stark edited their review of gene: IPO8: Changed rating: GREEN; Changed publications: 34010604
Intellectual disability syndromic and non-syndromic v0.3798 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Intellectual disability syndromic and non-syndromic v0.3798 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3798 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Mitochondrial disease v0.629 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Mitochondrial disease v0.629 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.629 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Intellectual disability syndromic and non-syndromic v0.3797 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Mitochondrial disease v0.628 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Intellectual disability syndromic and non-syndromic v0.3796 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3795 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.627 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7709 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Mendeliome v0.7709 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.626 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7709 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Mendeliome v0.7708 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Mendeliome v0.7707 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7706 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Classified gene: NFU1 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.4 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFU1 were set to 22077971; 25918518; 28470589; 31516295; 32669393; 31461310
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy
Review for gene: NFU1 was set to GREEN
Added comment: Biallelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe neonatal onset disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, leukodystrophy, lactic acidosis, and early death.

More than 50% of infant patients are found to display significant PAH, which can initially be an isolated and prominent finding (PMID: 22077971; 25918518; 28470589; 31516295; 32669393). Pulmonary samples from NFU1-deficient individuals with PAH showed obstructive vasculopathy with proximal and acinar arterial involvement (PMID: 22077971).

Humanised rare model of NFU1 deficiency showed features of mitochondrial dysfunction comparable to those observed in patients and also developed PAH (PMID: 31461310)
Sources: Expert list
Mendeliome v0.7706 RAB11B Zornitza Stark commented on gene: RAB11B: NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.
Genetic Epilepsy v0.1091 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Genetic Epilepsy v0.1091 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1091 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Genetic Epilepsy v0.1090 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Genetic Epilepsy v0.1089 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1088 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3795 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Intellectual disability syndromic and non-syndromic v0.3795 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Leukodystrophy v0.222 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3795 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Intellectual disability syndromic and non-syndromic v0.3794 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Intellectual disability syndromic and non-syndromic v0.3793 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3792 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7706 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Mendeliome v0.7706 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Mendeliome v0.7706 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Mendeliome v0.7705 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Mendeliome v0.7704 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7703 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7703 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Mendeliome v0.7703 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Mendeliome v0.7703 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from to Neurodevelopmental disorder; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Mendeliome v0.7702 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to
Mendeliome v0.7701 UFSP2 Zornitza Stark Mode of inheritance for gene: UFSP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7700 UFSP2 Zornitza Stark changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all. Additional cases identified through the 100,000 Genomes project.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.
Mendeliome v0.7700 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.3792 UFSP2 Zornitza Stark Classified gene: UFSP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3792 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3791 UFSP2 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.3791 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Added comment: Additional cases identified in 100,000 Genomes project.; Changed rating: GREEN; Changed phenotypes: Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1088 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1088 UFSP2 Zornitza Stark Classified gene: UFSP2 as Green List (high evidence)
Genetic Epilepsy v0.1088 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Mendeliome v0.7700 KLHL13 Zornitza Stark Marked gene: KLHL13 as ready
Mendeliome v0.7700 KLHL13 Zornitza Stark Gene: klhl13 has been classified as Red List (Low Evidence).
Mendeliome v0.7700 KLHL13 Zornitza Stark gene: KLHL13 was added
gene: KLHL13 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Review for gene: KLHL13 was set to RED
Added comment: Single family (two affected males) with an inherited peripheral neuropathy, no functional analysis.
Sources: Expert Review
Mendeliome v0.7699 PRX Zornitza Stark Marked gene: PRX as ready
Mendeliome v0.7699 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Mendeliome v0.7699 PRX Zornitza Stark Phenotypes for gene: PRX were changed from to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900
Mendeliome v0.7698 PRX Zornitza Stark Publications for gene: PRX were set to
Mendeliome v0.7697 PRX Zornitza Stark Mode of inheritance for gene: PRX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7696 PRX Zornitza Stark reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7696 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Mendeliome v0.7696 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence).
Mendeliome v0.7696 PLEKHG5 Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from to Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Mendeliome v0.7695 PLEKHG5 Zornitza Stark Publications for gene: PLEKHG5 were set to
Mendeliome v0.7694 PLEKHG5 Zornitza Stark Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7693 PLEKHG5 Zornitza Stark reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7693 NEFL Zornitza Stark Marked gene: NEFL as ready
Mendeliome v0.7693 NEFL Zornitza Stark Gene: nefl has been classified as Green List (High Evidence).
Mendeliome v0.7693 NEFL Zornitza Stark Phenotypes for gene: NEFL were changed from to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684
Mendeliome v0.7692 NEFL Zornitza Stark Publications for gene: NEFL were set to
Mendeliome v0.7691 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7690 NEFL Zornitza Stark reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: None; Publications: 10841809, 12393795, 14733962, 24887401, 25877835, 20039262, 12566280, 29191368, 28902413; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.145 ADNP Zornitza Stark Marked gene: ADNP as ready
Autism v0.145 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Autism v0.145 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Autism v0.144 ADNP Zornitza Stark Publications for gene: ADNP were set to
Autism v0.143 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.142 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3791 ADNP Zornitza Stark Marked gene: ADNP as ready
Intellectual disability syndromic and non-syndromic v0.3791 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3791 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Intellectual disability syndromic and non-syndromic v0.3790 ADNP Zornitza Stark Publications for gene: ADNP were set to
Intellectual disability syndromic and non-syndromic v0.3789 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3788 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7690 ADNP Zornitza Stark Marked gene: ADNP as ready
Mendeliome v0.7690 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Mendeliome v0.7690 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Mendeliome v0.7689 ADNP Zornitza Stark Publications for gene: ADNP were set to
Mendeliome v0.7688 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7687 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7687 ADNP Elena Savva reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7687 CHUK Zornitza Stark Marked gene: CHUK as ready
Mendeliome v0.7687 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7687 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Mendeliome v0.7686 CHUK Zornitza Stark Publications for gene: CHUK were set to
Mendeliome v0.7685 CHUK Zornitza Stark Mode of inheritance for gene: CHUK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7684 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Mendeliome v0.7684 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7683 CHUK Zornitza Stark reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.58 DES Zornitza Stark Tag for review tag was added to gene: DES.
Arrhythmogenic Cardiomyopathy v0.58 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic Cardiomyopathy v0.57 PLN Zornitza Stark Publications for gene: PLN were set to 22820313
Arrhythmogenic Cardiomyopathy v0.56 TMEM43 Zornitza Stark Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986; 29980933
Arrhythmogenic Cardiomyopathy v0.55 TMEM43 Zornitza Stark Tag founder tag was added to gene: TMEM43.
Arrhythmogenic Cardiomyopathy v0.55 JUP Zornitza Stark Publications for gene: JUP were set to 16722579; 17924338
Arrhythmogenic Cardiomyopathy v0.54 DSC2 Zornitza Stark Publications for gene: DSC2 were set to 17963498; 21062920; 23863954; 17186466; 18957847; 17033975; 28339476
Arrhythmogenic Cardiomyopathy v0.53 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.52 DSG2 Zornitza Stark Publications for gene: DSG2 were set to
Arrhythmogenic Cardiomyopathy v0.51 DES Ivan Macciocca reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.51 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Carvajal syndrome
Arrhythmogenic Cardiomyopathy v0.50 DSP Zornitza Stark Publications for gene: DSP were set to 15941723; 25765472; 23954618; 20864495; 21397041; 24938629; 22240500
Arrhythmogenic Cardiomyopathy v0.49 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.48 DSP Zornitza Stark edited their review of gene: DSP: Added comment: Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.; Changed publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500, 31073624, 30345701, 11063735; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.48 PLN Ivan Macciocca edited their review of gene: PLN: Added comment: MODERATE evidence for ARVC, as reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308). Common Dutch founder mutation PLN Arg14del.; Changed publications: ARVC
Arrhythmogenic Cardiomyopathy v0.48 PKP2 Zornitza Stark Publications for gene: PKP2 were set to
Arrhythmogenic Cardiomyopathy v0.47 TMEM43 Ivan Macciocca edited their review of gene: TMEM43: Set current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.47 TMEM43 Ivan Macciocca reviewed gene: TMEM43: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None
Arrhythmogenic Cardiomyopathy v0.47 JUP Ivan Macciocca reviewed gene: JUP: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC, Naxos disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.47 DSP Ivan Macciocca edited their review of gene: DSP: Changed phenotypes: ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome
Arrhythmogenic Cardiomyopathy v0.47 DSC2 Ivan Macciocca reviewed gene: DSC2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.47 DSG2 Ivan Macciocca reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None
Arrhythmogenic Cardiomyopathy v0.47 DSP Ivan Macciocca reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.47 PKP2 Ivan Macciocca reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.7683 TMEM251 Zornitza Stark Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345
Mendeliome v0.7682 TMEM251 Zornitza Stark reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.103 TMEM251 Zornitza Stark Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345
Skeletal dysplasia v0.102 TMEM251 Zornitza Stark reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7682 PARP6 Zornitza Stark Mode of inheritance for gene: PARP6 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7681 PARP6 Zornitza Stark edited their review of gene: PARP6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7681 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Mendeliome v0.7681 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Mendeliome v0.7681 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Mendeliome v0.7681 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Mendeliome v0.7680 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PARP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Microcephaly v1.18 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Microcephaly v1.18 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Microcephaly v1.18 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Microcephaly v1.18 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Microcephaly v1.17 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Microcephaly v1.17 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Microcephaly v1.16 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1086 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3787 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Mendeliome v0.7679 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Mendeliome v0.7679 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Mendeliome v0.7679 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Mendeliome v0.7678 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Mendeliome v0.7677 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7676 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Ciliopathies v0.280 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Ciliopathies v0.279 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.278 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Renal Ciliopathies and Nephronophthisis v0.149 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Renal Ciliopathies and Nephronophthisis v0.148 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.147 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.148 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Additional findings_Adult v0.148 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Additional findings_Adult v0.148 RPE65 Zornitza Stark Classified gene: RPE65 as Green List (high evidence)
Additional findings_Adult v0.148 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Additional findings_Adult v0.147 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RPE65 were set to 34012068
Phenotypes for gene: RPE65 were set to RPE-related retinopathy
Review for gene: RPE65 was set to GREEN
Added comment: Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease.
Sources: Expert list
Additional findings_Adult v0.146 HNF1A Zornitza Stark Marked gene: HNF1A as ready
Additional findings_Adult v0.146 HNF1A Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence).
Additional findings_Adult v0.146 HNF1A Zornitza Stark Classified gene: HNF1A as Green List (high evidence)
Additional findings_Adult v0.146 HNF1A Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence).
Additional findings_Adult v0.145 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1A were set to 34012068
Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
Review for gene: HNF1A was set to GREEN
Added comment: Included in ACMG V3.0 SF list, accounts for 30-50% of known MODY cases likely to respond to high dose sulfonylureas; early treatment may prevent complications.
Sources: Expert list
Additional findings_Adult v0.144 ENG Zornitza Stark Marked gene: ENG as ready
Additional findings_Adult v0.144 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Additional findings_Adult v0.144 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Additional findings_Adult v0.144 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Additional findings_Adult v0.143 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 34012068
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Review for gene: ENG was set to GREEN
Added comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention.
Sources: Expert list
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.141 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 34012068
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention.
Sources: Expert list
Additional findings_Adult v0.140 GAA Zornitza Stark Marked gene: GAA as ready
Additional findings_Adult v0.140 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Additional findings_Adult v0.140 GAA Zornitza Stark Classified gene: GAA as Green List (high evidence)
Additional findings_Adult v0.140 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Additional findings_Adult v0.139 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 34012068
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300; Pompe disease
Review for gene: GAA was set to GREEN
Added comment: Included in ACMG V3.0 SF list, presentation can be in adulthood, effective enzyme replacement therapy available.
Sources: Expert list
Additional findings_Adult v0.138 BTD Zornitza Stark Marked gene: BTD as ready
Additional findings_Adult v0.138 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Additional findings_Adult v0.138 BTD Zornitza Stark Classified gene: BTD as Green List (high evidence)
Additional findings_Adult v0.138 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Additional findings_Adult v0.137 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 34012068
Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM# 253260
Review for gene: BTD was set to GREEN
Added comment: Included in ACMG SF V3.0, clinical presentation can be in adulthood, features can be non-specific, highly effective treatment available.
Sources: Expert list
Additional findings_Adult v0.136 TTN Zornitza Stark Marked gene: TTN as ready
Additional findings_Adult v0.136 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Additional findings_Adult v0.136 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Additional findings_Adult v0.136 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Additional findings_Adult v0.135 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to 34012068
Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM# 604145
Review for gene: TTN was set to GREEN
Added comment: Included in ACMG V3.0 SF list, risk fo sudden death with preventative interventions available.

We note the difficulty in interpreting variants in this gene: truncating variants with previously established pathogenicity to be reported only.
Sources: Expert list
Additional findings_Adult v0.134 TRDN Zornitza Stark Marked gene: TRDN as ready
Additional findings_Adult v0.134 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Additional findings_Adult v0.134 TRDN Zornitza Stark Classified gene: TRDN as Green List (high evidence)
Additional findings_Adult v0.134 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Additional findings_Adult v0.133 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 34012068
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Review for gene: TRDN was set to GREEN
Added comment: Included in ACMG SF V3.0 list, risk of sudden death with preventative interventions available
Sources: Expert list
Additional findings_Adult v0.132 FLNC Zornitza Stark Marked gene: FLNC as ready
Additional findings_Adult v0.132 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Additional findings_Adult v0.132 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Additional findings_Adult v0.132 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Additional findings_Adult v0.131 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 34012068
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Review for gene: FLNC was set to GREEN
Added comment: Included in ACMG SF V3.0, risk of sudden death with preventative interventions available.
Sources: Expert list
Additional findings_Adult v0.129 Zornitza Stark Panel types changed to Melbourne Genomics; Australian Genomics
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Classified gene: CASQ2 as Green List (high evidence)
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.127 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASQ2 were set to 34012068
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Review for gene: CASQ2 was set to GREEN
Added comment: Included in ACMG SF V3.0 list as risk fo sudden death with preventative interventions available.
Sources: Expert list
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Classified gene: TMEM127 as Green List (high evidence)
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Additional findings_Adult v0.125 TMEM127 Zornitza Stark gene: TMEM127 was added
gene: TMEM127 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM127 were set to 34012068
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to} 171300
Review for gene: TMEM127 was set to GREEN
Added comment: Included in ACMG V3.0 SF list as penetrance met threshold to include with other PGL/PCC genes.
Sources: Expert list
Additional findings_Adult v0.124 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Additional findings_Adult v0.124 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.124 PALB2 Zornitza Stark Classified gene: PALB2 as Green List (high evidence)
Additional findings_Adult v0.124 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.123 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PALB2 were set to 34012068
Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480
Review for gene: PALB2 was set to GREEN
Added comment: Included in ACMG V3.0 as risk of breast cancer meets penetrance threshold.
Sources: Expert list
Additional findings_Adult v0.122 MAX Zornitza Stark Marked gene: MAX as ready
Additional findings_Adult v0.122 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Additional findings_Adult v0.122 MAX Zornitza Stark Classified gene: MAX as Green List (high evidence)
Additional findings_Adult v0.122 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Additional findings_Adult v0.121 MAX Zornitza Stark gene: MAX was added
gene: MAX was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 34012068
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to} 171300
Review for gene: MAX was set to GREEN
Added comment: Recommended on ACMG V3.0 list as penetrance met threshold to include with other PGL/PCC genes.
Sources: Expert list
Cone-rod Dystrophy v0.23 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Cone-rod retinopathy; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Cone-rod retinopathy; cardiomyopathy
Cone-rod Dystrophy v0.22 SLC6A6 Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy
Mendeliome v0.7676 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy
Dilated Cardiomyopathy v1.2 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy
Dilated Cardiomyopathy v1.1 SLC6A6 Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Konstantinos Varvagiannis changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

**Monoallelic** (correction to previous review) UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Genetic Epilepsy v0.1085 UFSP2 Konstantinos Varvagiannis changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

**Monoallelic** (correction to previous review) UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Mendeliome v0.7675 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Mendeliome v0.7675 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Mendeliome v0.7675 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; MONDO:0014866
Mendeliome v0.7674 DNAJB2 Zornitza Stark Publications for gene: DNAJB2 were set to
Mendeliome v0.7673 DNAJB2 Zornitza Stark Mode of inheritance for gene: DNAJB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7672 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522442, 25274842, 33369814, 22522442; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881, MONDO:0014866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7672 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; Spinal muscular atrophy, distal, X-linked 3, MIM# 300489
Mendeliome v0.7671 ATP7A Zornitza Stark Publications for gene: ATP7A were set to 21221114
Mendeliome v0.7670 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336; Phenotypes: Menkes disease MIM#309400, Occipital horn syndrome MIM#304150, Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Skeletal dysplasia v0.101 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to 28892125; 26428751
Skeletal dysplasia v0.100 UFSP2 Zornitza Stark Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.99 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Skeletal dysplasia v0.99 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.98 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26428751, 28892125, 32755715; Phenotypes: Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7670 UFSP2 Zornitza Stark changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: single 3-generation family reported.; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.
Mendeliome v0.7670 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed publications: 33473208, 26428751, 28892125, 32755715
Mendeliome v0.7670 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33473208, 26428751, 28892125; Phenotypes: Neurodevelopmental disorder, Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1084 UFSP2 Zornitza Stark Tag founder tag was added to gene: UFSP2.
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Added comment: Comment when marking as ready: Amber rating as single, likely founder variant.
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Tag founder tag was added to gene: UFSP2.
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7670 TRPV6 Zornitza Stark Marked gene: TRPV6 as ready
Mendeliome v0.7670 TRPV6 Zornitza Stark Gene: trpv6 has been classified as Green List (High Evidence).
Mendeliome v0.7670 TRPV6 Zornitza Stark Phenotypes for gene: TRPV6 were changed from to Hyperparathyroidism, transient neonatal, MIM# 618188; Early onset chronic pancreatitis susceptibility
Mendeliome v0.7669 TRPV6 Zornitza Stark Publications for gene: TRPV6 were set to
Mendeliome v0.7668 TRPV6 Zornitza Stark Mode of inheritance for gene: TRPV6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7667 TRPV6 Zornitza Stark reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1084 UFSP2 Konstantinos Varvagiannis gene: UFSP2 was added
gene: UFSP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFSP2 were set to 33473208
Phenotypes for gene: UFSP2 were set to Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus
Penetrance for gene: UFSP2 were set to Complete
Review for gene: UFSP2 was set to AMBER
Added comment: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3785 UFSP2 Konstantinos Varvagiannis gene: UFSP2 was added
gene: UFSP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFSP2 were set to 33473208
Phenotypes for gene: UFSP2 were set to Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus
Penetrance for gene: UFSP2 were set to Complete
Review for gene: UFSP2 was set to AMBER
Added comment: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Hereditary Spastic Paraplegia v1.13 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 to Cataracts, spastic paraparesis, and speech delay, MIM#619338; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Hereditary Spastic Paraplegia v1.12 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed rating: GREEN; Changed phenotypes: Cataracts, spastic paraparesis, and speech delay, MIM#619338; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3785 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; 33239752 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338
Intellectual disability syndromic and non-syndromic v0.3784 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Peroxisomal Disorders v0.20 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); Cataracts, spastic paraparesis, and speech delay, MIM#619338
Peroxisomal Disorders v0.19 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Cataracts, spastic paraparesis, and speech delay, MIM#619338
Mendeliome v0.7667 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; spastic paraparesis and bilateral cataracts to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338
Mendeliome v0.7666 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Cataract v0.277 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 to Cataracts, spastic paraparesis, and speech delay, MIM#619338; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Cataract v0.276 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Mendeliome v0.7666 CLDN11 Zornitza Stark Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy-22, MIM#619328
Mendeliome v0.7665 CLDN11 Zornitza Stark reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy-22, MIM#619328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.222 CLDN11 Zornitza Stark Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy-22, MIM#619328
Leukodystrophy v0.221 CLDN11 Zornitza Stark reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy-22, MIM#619328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3784 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Intellectual disability syndromic and non-syndromic v0.3783 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.142 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Autism v0.141 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7665 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Mendeliome v0.7664 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.67 MBD4 Zornitza Stark Marked gene: MBD4 as ready
Incidentalome v0.67 MBD4 Zornitza Stark Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.67 MBD4 Zornitza Stark Classified gene: MBD4 as Amber List (moderate evidence)
Incidentalome v0.67 MBD4 Zornitza Stark Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.66 MBD4 Zornitza Stark gene: MBD4 was added
gene: MBD4 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf
Phenotypes for gene: MBD4 were set to AML and colorectal polyps; MBD4-associated neoplasia syndrome
Review for gene: MBD4 was set to AMBER
Added comment: Three individuals reported with bi-allelic LOF and rare combination of AML and adenomatous colorectal polyps.
Sources: Literature
Autonomic neuropathy v0.48 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from OMIM# 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Autonomic neuropathy v0.47 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Autonomic neuropathy v0.46 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Additional findings_Paediatric v0.219 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Additional findings_Paediatric v0.218 RETREG1 Zornitza Stark Classified gene: RETREG1 as Green List (high evidence)
Additional findings_Paediatric v0.218 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.217 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.26 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Pain syndromes v0.26 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Pain syndromes v0.26 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Pain syndromes v0.25 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336
Pain syndromes v0.24 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7664 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Mendeliome v0.7664 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Mendeliome v0.7664 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Mendeliome v0.7663 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Mendeliome v0.7662 RETREG1 Zornitza Stark Mode of inheritance for gene: RETREG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7661 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3783 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; MONDO:0014117
Intellectual disability syndromic and non-syndromic v0.3782 SBF1 Zornitza Stark edited their review of gene: SBF1: Changed phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284, MONDO:0014117
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Classified gene: SBF1 as Green List (high evidence)
Hereditary Neuropathy v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Mendeliome v0.7661 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Mendeliome v0.7661 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.109 SBF1 Zornitza Stark gene: SBF1 was added
gene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Review for gene: SBF1 was set to GREEN
Added comment: At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies.
Sources: Expert Review
Mendeliome v0.7661 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Mendeliome v0.7660 SBF1 Zornitza Stark Publications for gene: SBF1 were set to
Mendeliome v0.7659 SBF1 Zornitza Stark Mode of inheritance for gene: SBF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7658 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749797, 23749797, 32444983, 30039846, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3 , MIM#615284, MONDO:0014117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7658 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Mendeliome v0.7658 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Mendeliome v0.7658 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563
Mendeliome v0.7657 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Mendeliome v0.7656 SBF2 Zornitza Stark Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7655 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7655 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Mendeliome v0.7655 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Mendeliome v0.7655 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, MIM# 615551
Mendeliome v0.7654 SCN10A Zornitza Stark Publications for gene: SCN10A were set to
Mendeliome v0.7653 SCN10A Zornitza Stark Mode of inheritance for gene: SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7652 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.24 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Pain syndromes v0.24 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Pain syndromes v0.24 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 to Small fibre neuropathy; Episodic pain syndrome, familial, 2, MIM# 615551
Pain syndromes v0.23 SCN10A Zornitza Stark Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307
Pain syndromes v0.22 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Angelman Rett like syndromes v0.48 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Angelman Rett like syndromes v0.47 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.46 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392, 27062609; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Stroke v1.0 Zornitza Stark promoted panel to version 1.0
Stroke v0.101 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Stroke v0.101 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Stroke v0.101 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Stroke v0.101 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Stroke v0.101 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Vasculopathy, retinal, with cerebral leukodystrophy to Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315
Stroke v0.100 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.100 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Stroke v0.100 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Stroke v0.100 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from Stormorken syndrome to Stormorken syndrome, MIM# 185070
Stroke v0.99 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stormorken syndrome, MIM# 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.99 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Stroke v0.99 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Stroke v0.99 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Marked gene: MYCN as ready
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Mendeliome v0.7652 KCNA2 Elena Savva reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33802230, 29050392; Phenotypes: Developmental and epileptic encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7652 MYCN Kristin Rigbye reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21224895, 8470948; Phenotypes: Feingold syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.71 MYCN Kristin Rigbye gene: MYCN was added
gene: MYCN was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCN were set to 30573562
Phenotypes for gene: MYCN were set to Neurodevelopmental disorder with megalencephaly
Mode of pathogenicity for gene: MYCN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MYCN was set to RED
Added comment: Single report of a de novo missense p.T58M in an individual with a novel megalencephaly syndrome, a Japanese boy with an intellectual disability (ID), distinctive facies, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, postnatal growth retardation, postaxial polydactyly and neuroblastoma.

Biochemical and cell biology experiments revealed that the mutation renders MYCN resistant to proteolysis and may improperly potentiate cortical neuron proliferation. MYCN activity regulates granule neuron proliferation through induction of CCND1 and CCND2, and this syndrome was similar to CCND2 gene abnormalities that impart excessive protein stability cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This residue is also frequently mutated in c-Myc in Burkitt’s lymphoma (also due to GoF by gene amplification), consistent with its functions in cell proliferation and differentiation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3782 TBC1D2B Zornitza Stark Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Intellectual disability syndromic and non-syndromic v0.3781 TBC1D2B Zornitza Stark reviewed gene: TBC1D2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1084 TBC1D2B Zornitza Stark Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Genetic Epilepsy v0.1083 TBC1D2B Zornitza Stark reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7652 TBC1D2B Zornitza Stark Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Mendeliome v0.7651 TBC1D2B Zornitza Stark edited their review of gene: TBC1D2B: Changed phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323, Global developmental delay, Intellectual disability, Seizures, Gingival overgrowth, Behavioral abnormality, Abnormality of the mandible, Abnormality of brain morphology, Abnormality of the eye, Hearing abnormality
Mendeliome v0.7651 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Mendeliome v0.7651 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Green List (High Evidence).
Mendeliome v0.7651 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Mendeliome v0.7650 COL5A1 Zornitza Stark Publications for gene: COL5A1 were set to
Mendeliome v0.7649 COL5A1 Zornitza Stark Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7648 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 32938213; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.32 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Aortopathy_Connective Tissue Disorders v1.31 COL5A1 Zornitza Stark Publications for gene: COL5A1 were set to 30071989
Aortopathy_Connective Tissue Disorders v1.30 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32938213; Phenotypes: Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3781 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Intellectual disability syndromic and non-syndromic v0.3781 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3781 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317
Intellectual disability syndromic and non-syndromic v0.3780 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1083 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403 to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Febrile seizures, familial, 3A 604403
Genetic Epilepsy v0.1082 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317, Febrile seizures, familial, 3A 604403
Mendeliome v0.7648 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita
Mendeliome v0.7647 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208, Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures, Arthrogryposis multiplex congenita
Intellectual disability syndromic and non-syndromic v0.3780 KDM4B Zornitza Stark Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects
Intellectual disability syndromic and non-syndromic v0.3779 KDM4B Zornitza Stark reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1082 KDM4B Zornitza Stark Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects
Genetic Epilepsy v0.1081 KDM4B Zornitza Stark reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7647 KDM4B Zornitza Stark Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects
Mendeliome v0.7646 KDM4B Zornitza Stark reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Bone Marrow Failure v0.219 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Bone Marrow Failure v0.218 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.217 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7646 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Mendeliome v0.7646 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Mendeliome v0.7646 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Mendeliome v0.7645 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Mendeliome v0.7644 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7643 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v1.11 DKC1 Zornitza Stark Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935
Motor Neurone Disease v0.120 CYLD Bryony Thompson Classified gene: CYLD as Amber List (moderate evidence)
Motor Neurone Disease v0.120 CYLD Bryony Thompson Gene: cyld has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.10 DKC1 Michelle Torres reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25940403; Phenotypes: X-linked dyskeratosis congenita (MIM#305000), Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v1.0 Zornitza Stark promoted panel to version 1.0
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Marked gene: VCL as ready
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407
Dilated Cardiomyopathy v0.147 VCL Zornitza Stark Publications for gene: VCL were set to
Dilated Cardiomyopathy v0.146 VCL Zornitza Stark Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.145 VCL Zornitza Stark reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 32516855, 26406308, 26458567, 24062880, 11815424, 17785437; Phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878
Dilated Cardiomyopathy v0.144 TPM1 Zornitza Stark Publications for gene: TPM1 were set to
Dilated Cardiomyopathy v0.143 TPM1 Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.142 TPM1 Zornitza Stark Tag for review tag was added to gene: TPM1.
Dilated Cardiomyopathy v0.142 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11273725, 23147248, 20117437, 15249230, 20215591, 21483645, 31983221, 28600229; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878; Mode of inheritance: None
Dilated Cardiomyopathy v0.142 NEXN Zornitza Stark Tag for review tag was added to gene: NEXN.
Dilated Cardiomyopathy v0.142 TNNI3 Zornitza Stark Tag for review tag was added to gene: TNNI3.
Dilated Cardiomyopathy v0.142 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369 to Cardiomyopathy, dilated, 1FF, MIM#613286
Dilated Cardiomyopathy v0.141 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to 15607392
Dilated Cardiomyopathy v0.140 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.139 TNNI3 Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Marked gene: NEXN as ready
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Cardiomyopathy, dilated, 1CC, MIM# 613122
Dilated Cardiomyopathy v0.138 NEXN Zornitza Stark Publications for gene: NEXN were set to
Dilated Cardiomyopathy v0.137 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.136 NEXN Zornitza Stark reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19881492, 28416588, 25163546, 27532257, 24503780, 29540472, 26659360; Phenotypes: Cardiomyopathy, dilated, 1CC, MIM# 613122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.136 JPH2 Zornitza Stark Publications for gene: JPH2 were set to PMID: 31227780
Dilated Cardiomyopathy v0.135 JPH2 Zornitza Stark Mode of inheritance for gene: JPH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.134 JPH2 Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.134 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.133 JPH2 Zornitza Stark changed review comment from: Gene is also associated with HCM.

Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; to: Gene is also associated with HCM.

Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.

MODERATE by ClinGen.
Dilated Cardiomyopathy v0.133 JPH2 Zornitza Stark edited their review of gene: JPH2: Added comment: Gene is also associated with HCM.

Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; Changed rating: AMBER; Changed publications: 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.12 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation type II
Congenital Disorders of Glycosylation v1.11 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to 32884905
Congenital Disorders of Glycosylation v1.10 SLC37A4 Zornitza Stark Classified gene: SLC37A4 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.10 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.119 CYLD Bryony Thompson gene: CYLD was added
gene: CYLD was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32666117; 32666099; 32185393
Phenotypes for gene: CYLD were set to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Mode of pathogenicity for gene: CYLD was set to Other
Review for gene: CYLD was set to AMBER
Added comment: Original study (PMID: 32185393) identified a gain of function missense segregating 7 FTD cases (1 also with ALS) and 1 ALS case in an Australian family, that has a previously identified linkage peak in this region. Extensive genomic studies were conducted to exclude structural variation and repeats as causes. Supporting immunohistochemical evidence in brain tissue and extensive in vitro assays on the missense variant (M719V), showing a different mechanism of disease to loss of function that is associated with cutaneous phenotypes. Also, demonstrated a significant enrichment of rare missense variants in the deubiquitinase domain of CYLD (amino acids 593–948) in an FTD cohort, but not an ALS cohort. A subsequent Portuguese FTD study has identified two missense VUS in 2 FTD cases. Segregation studies or functional studies were not conducted (PMID: 32666117).
Sources: Literature
Congenital Disorders of Glycosylation v1.9 SLC37A4 Kristin Rigbye reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33728255; Phenotypes: Congenital disorder of glycosylation type II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424
Dilated Cardiomyopathy v0.132 ACTC1 Zornitza Stark Publications for gene: ACTC1 were set to
Dilated Cardiomyopathy v0.131 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.130 ACTC1 Zornitza Stark Tag for review tag was added to gene: ACTC1.
Dilated Cardiomyopathy v0.130 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 30384889, 9563954, 14605248, 20600154, 26432839; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Marked gene: DSP as ready
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Dilated Cardiomyopathy v0.129 DSP Zornitza Stark Publications for gene: DSP were set to
Dilated Cardiomyopathy v0.128 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.127 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 24108106; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.127 TTN Zornitza Stark Publications for gene: TTN were set to 22335739; 25589632; 28045975
Dilated Cardiomyopathy v0.126 TTN Zornitza Stark edited their review of gene: TTN: Added comment: DEFINITIVE by ClinGen.; Changed publications: 22335739, 33947203
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494
Dilated Cardiomyopathy v0.125 TNNT2 Zornitza Stark Publications for gene: TNNT2 were set to
Dilated Cardiomyopathy v0.124 TNNT2 Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.123 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 11106718, 20978592, 20031601, 15542288, 17556660; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Dilated Cardiomyopathy v0.122 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; MONDO:0012745
Dilated Cardiomyopathy v0.121 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.120 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.120 RBM20 Zornitza Stark Publications for gene: RBM20 were set to 30871351
Dilated Cardiomyopathy v0.119 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Marked gene: PLN as ready
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909
Dilated Cardiomyopathy v0.118 PLN Zornitza Stark Publications for gene: PLN were set to
Dilated Cardiomyopathy v0.117 PLN Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.116 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262
Dilated Cardiomyopathy v0.115 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Dilated Cardiomyopathy v0.114 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.113 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21483645, 30874888, 21846512, 30384889, 25935763, 24558114, 27000522, 31179125, 24119082, 27965028, 33947203; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, MONDO:0013262; Mode of inheritance: None
Dilated Cardiomyopathy v0.113 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 1A, MIM# 115200
Dilated Cardiomyopathy v0.112 LMNA Zornitza Stark Publications for gene: LMNA were set to
Dilated Cardiomyopathy v0.111 LMNA Zornitza Stark edited their review of gene: LMNA: Added comment: DEFINITIVE by ClinGen.; Changed rating: GREEN; Changed publications: 33947203; Changed phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.111 FLNC Zornitza Stark Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Dilated Cardiomyopathy v0.110 FLNC Zornitza Stark reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Marked gene: DES as ready
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; MONDO:0011482
Dilated Cardiomyopathy v0.109 DES Zornitza Stark Publications for gene: DES were set to
Dilated Cardiomyopathy v0.108 DES Zornitza Stark Mode of inheritance for gene: DES was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.107 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, MONDO:0011482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479
Dilated Cardiomyopathy v0.106 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Dilated Cardiomyopathy v0.105 BAG3 Zornitza Stark Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.104 BAG3 Zornitza Stark edited their review of gene: BAG3: Changed phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881, MONDO:0013479
Dilated Cardiomyopathy v0.104 BAG3 Zornitza Stark reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353195, 25008357, 25448463, 24623017, 27391596, 28211974, 30442290, 31983221, 28737513, 29323723, 33947203; Phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3779 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Intellectual disability syndromic and non-syndromic v0.3779 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3779 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957
Intellectual disability syndromic and non-syndromic v0.3778 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Intellectual disability syndromic and non-syndromic v0.3777 THOC2 Zornitza Stark Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7643 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Mendeliome v0.7643 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Mendeliome v0.7643 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957
Mendeliome v0.7642 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Mendeliome v0.7641 THOC2 Zornitza Stark Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Amyloidosis v0.21 FGA Zornitza Stark Publications for gene: FGA were set to PubMed: 8097946; 8639778; 12050338
Amyloidosis v0.20 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Amyloidosis, familial visceral (MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Marked gene: FGA as ready
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400)
Bleeding and Platelet Disorders v0.222 FGA Zornitza Stark Publications for gene: FGA were set to
Bleeding and Platelet Disorders v0.221 FGA Zornitza Stark Mode of inheritance for gene: FGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.220 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7640 FGA Zornitza Stark Marked gene: FGA as ready
Mendeliome v0.7640 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Mendeliome v0.7640 FGA Zornitza Stark Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400), AR; Amyloidosis, familial visceral (MIM#105200), AD
Mendeliome v0.7639 FGA Zornitza Stark Publications for gene: FGA were set to
Mendeliome v0.7638 FGA Zornitza Stark Mode of inheritance for gene: FGA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3776 THOC2 Paul De Fazio reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480, 32116545, 29851191, 32960281; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.7637 THOC2 Paul De Fazio changed review comment from: Multiple (>10) individuals with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).; to: Multiple (>10) males with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).
Mendeliome v0.7637 THOC2 Paul De Fazio edited their review of gene: THOC2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7637 THOC2 Paul De Fazio reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480, 32116545, 29851191, 32960281; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.7637 FGA Chern Lim reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400), AR, Amyloidosis, familial visceral (MIM#105200), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.7637 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Mendeliome v0.7637 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Mendeliome v0.7637 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641
Mendeliome v0.7636 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to
Mendeliome v0.7635 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7634 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152456, 29499165; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7634 ST14 Zornitza Stark Marked gene: ST14 as ready
Mendeliome v0.7634 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Mendeliome v0.7634 ST14 Zornitza Stark Phenotypes for gene: ST14 were changed from to Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400
Mendeliome v0.7633 ST14 Zornitza Stark Publications for gene: ST14 were set to
Mendeliome v0.7632 ST14 Zornitza Stark Mode of inheritance for gene: ST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7631 ST14 Zornitza Stark reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18843291, 29611532, 17273967; Phenotypes: Ichthyosis, congenital, autosomal recessive 11 MIM#602400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Marked gene: ST14 as ready
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Gene: st14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Classified gene: ST14 as Green List (high evidence)
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Gene: st14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.53 ST14 Bryony Thompson gene: ST14 was added
gene: ST14 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 18843291; 29611532; 17273967
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Review for gene: ST14 was set to GREEN
Added comment: At least 4 consanguineous families with ichthyosis and generalized non-scarring hypotrichosis (an overlapping phenotype with ectodermal dysplasia), and some supporting evidence in patient keratinocytes.
Sources: NHS GMS
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Marked gene: GRHL2 as ready
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Classified gene: GRHL2 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.51 GRHL2 Bryony Thompson gene: GRHL2 was added
gene: GRHL2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHL2 were set to 25152456
Phenotypes for gene: GRHL2 were set to Ectodermal dysplasia/short stature syndrome MIM#616029
Review for gene: GRHL2 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous missense variants and some supporting assays on keratinocytes from cases.
Sources: NHS GMS
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Marked gene: ANAPC1 as ready
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Classified gene: ANAPC1 as Green List (high evidence)
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.49 ANAPC1 Bryony Thompson gene: ANAPC1 was added
gene: ANAPC1 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson syndrome, type 1 MIM#618625
Review for gene: ANAPC1 was set to GREEN
Added comment: 7 cases from 5 families with biallelic variants (3 different variants) have at least 2 ectodermal features as part of the phenotype.
Sources: NHS GMS
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Marked gene: NFKB2 as ready
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Mode of pathogenicity for gene: NFKB2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson edited their review of gene: NFKB2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson Classified gene: NFKB2 as Green List (high evidence)
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.46 NFKB2 Bryony Thompson gene: NFKB2 was added
gene: NFKB2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 31417880; 28778864; 27749582
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM#615577
Review for gene: NFKB2 was set to GREEN
Added comment: Heterozygous C-terminal variants (both stopgain and missense) with gain-of-function effects cause early onset common variable immunodeficiency (CVID) with ectodermal dysplasia, while loss of function cause CVID without ectodermal manifestations. >3 cases reported with ectodermal dysplasia as a feature of the condition.
Sources: NHS GMS
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Marked gene: MBTPS2 as ready
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Classified gene: MBTPS2 as Green List (high evidence)
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.44 MBTPS2 Bryony Thompson gene: MBTPS2 was added
gene: MBTPS2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MBTPS2 were set to 19361614; 22105905; 24313295
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205
Review for gene: MBTPS2 was set to GREEN
Added comment: >3 families reported with ectodermal dysplasia as a feature of the condition, however there is phenotype variability and intra-familial phenotype variability. Ectodermal dysplasia is a feature of BRESHECK syndrome
Sources: NHS GMS
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Marked gene: KRT14 as ready
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Classified gene: KRT14 as Green List (high evidence)
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.42 KRT14 Bryony Thompson gene: KRT14 was added
gene: KRT14 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 16960809; 30968399
Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome MIM#161000; Dermatopathia pigmentosa reticularis MIM#125595
Review for gene: KRT14 was set to GREEN
Added comment: >3 families reported with an ectodermal dysplasia syndrome that involves teeth, hair, and skin.
Sources: NHS GMS
Mendeliome v0.7631 CPE Zornitza Stark Marked gene: CPE as ready
Mendeliome v0.7631 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7631 CPE Zornitza Stark Classified gene: CPE as Amber List (moderate evidence)
Mendeliome v0.7631 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7630 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Review for gene: CPE was set to AMBER
Added comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Marked gene: CPE as ready
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Classified gene: CPE as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3775 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Review for gene: CPE was set to AMBER
Added comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: Expert list
Mendeliome v0.7629 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Mendeliome v0.7629 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence).
Mendeliome v0.7629 CELSR1 Zornitza Stark Classified gene: CELSR1 as Green List (high evidence)
Mendeliome v0.7629 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence).
Mendeliome v0.7628 CELSR1 Zornitza Stark gene: CELSR1 was added
gene: CELSR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Phenotypes for gene: CELSR1 were set to Lymphatic malformation 9, MIM# 619319
Review for gene: CELSR1 was set to GREEN
Added comment: 3 unrelated families reported.
Sources: Literature
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Marked gene: SLC2A4RG as ready
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Gene: slc2a4rg has been classified as Red List (Low Evidence).
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Classified gene: SLC2A4RG as Red List (low evidence)
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Gene: slc2a4rg has been classified as Red List (Low Evidence).
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Marked gene: SLCO1B1 as ready
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Added comment: Comment when marking as ready: Not a monogenic disorder.
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Gene: slco1b1 has been classified as Red List (Low Evidence).
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Phenotypes for gene: SLCO1B1 were changed from to Hyperbilirubinemia, Rotor type, digenic 237450
Mendeliome v0.7625 SLCO1B1 Zornitza Stark Publications for gene: SLCO1B1 were set to
Mendeliome v0.7624 SLCO1B1 Zornitza Stark Classified gene: SLCO1B1 as Red List (low evidence)
Mendeliome v0.7624 SLCO1B1 Zornitza Stark Gene: slco1b1 has been classified as Red List (Low Evidence).
Mendeliome v0.7623 SLC2A4RG Melanie Marty reviewed gene: SLC2A4RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.7623 SLCO1B1 Dean Phelan reviewed gene: SLCO1B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250148, 24918167; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3774 SIAH1 Zornitza Stark Phenotypes for gene: SIAH1 were changed from Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia to Buratti-Harel syndrome, MIM# 619314; Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Intellectual disability syndromic and non-syndromic v0.3773 SIAH1 Zornitza Stark edited their review of gene: SIAH1: Changed phenotypes: Buratti-Harel syndrome, MIM# 619314, Developmental delay, Infantile hypotonia, Dysmorphic features, Laryngomalacia
Mendeliome v0.7623 SIAH1 Zornitza Stark Phenotypes for gene: SIAH1 were changed from Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia to Buratti-Harel syndrome, MIM# 619314; Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Mendeliome v0.7622 SIAH1 Zornitza Stark reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Buratti-Harel syndrome, MIM# 619314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.15 SMARCA5 Zornitza Stark Marked gene: SMARCA5 as ready
Microcephaly v1.15 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Microcephaly v1.15 SMARCA5 Zornitza Stark Classified gene: SMARCA5 as Green List (high evidence)
Microcephaly v1.15 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Microcephaly v1.14 SMARCA5 Zornitza Stark gene: SMARCA5 was added
gene: SMARCA5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA5 were set to 33980485
Phenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features
Review for gene: SMARCA5 was set to GREEN
Added comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association.
Sources: Literature
Mendeliome v0.7622 SMARCA5 Zornitza Stark Marked gene: SMARCA5 as ready
Mendeliome v0.7622 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Mendeliome v0.7622 SMARCA5 Zornitza Stark Classified gene: SMARCA5 as Green List (high evidence)
Mendeliome v0.7622 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Mendeliome v0.7621 SMARCA5 Zornitza Stark gene: SMARCA5 was added
gene: SMARCA5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA5 were set to 33980485
Phenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features
Review for gene: SMARCA5 was set to GREEN
Added comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Marked gene: FBXW7 as ready
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Classified gene: FBXW7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Marked gene: SMARCA5 as ready
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Classified gene: SMARCA5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3771 SMARCA5 Zornitza Stark gene: SMARCA5 was added
gene: SMARCA5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA5 were set to 33980485
Phenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features
Review for gene: SMARCA5 was set to GREEN
Added comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3770 FBXW7 Zornitza Stark gene: FBXW7 was added
gene: FBXW7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to 33057194
Phenotypes for gene: FBXW7 were set to FBXW7-related neurodevelopmental syndrome
Review for gene: FBXW7 was set to GREEN
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 12 de novo missense and 1 de novo synonymous variant identified in ~10,000 cases with developmental disorders (no other phenotype info provided).

We are aware of additional cases pending publication.
Sources: Literature
Mendeliome v0.7620 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from Developmental disorder to FBXW7-related neurodevelopmental syndrome
Mendeliome v0.7619 FBXW7 Zornitza Stark Classified gene: FBXW7 as Green List (high evidence)
Mendeliome v0.7619 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Osteopetrosis v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Marked gene: PLEKHM1 as ready
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.76 PLEKHM1 Bryony Thompson Classified gene: PLEKHM1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.76 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.75 PLEKHM1 Bryony Thompson Deleted their comment
Defects of intrinsic and innate immunity v0.75 PLEKHM1 Bryony Thompson edited their review of gene: PLEKHM1: Added comment: 2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models. The recessive form is the only form reported in the IUIS 2019 PID update.; Changed rating: GREEN; Changed publications: 17404618, 32048120, 17997709, 27291868, 27777970, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107, Osteopetrosis, autosomal recessive 6 MIM#611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17997709, 27291868, 17404618, 27777970, 28290981; Phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Deleted their review
Mendeliome v0.7618 FBXW7 Elena Savva reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33057194; Phenotypes: FBXW7-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7618 LEMD2 Zornitza Stark changed review comment from: Recurrent de novo variant in both individuals; to: Recurrent de novo variant in both individuals p.Ser479Phe.
Mendeliome v0.7618 LEMD2 Zornitza Stark Phenotypes for gene: LEMD2 were changed from progeroid disorder to Marbach-Rustad progeroid syndrome, OMIM# 619322; progeroid disorder
Mendeliome v0.7617 LEMD2 Zornitza Stark reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Marbach-Rustad progeroid syndrome, OMIM# 619322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.119 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Clefting disorders v0.119 SEPT9 Zornitza Stark Gene: sept9 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.119 SEPT9 Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9.
Tag 5'UTR tag was added to gene: SEPT9.
Tag founder tag was added to gene: SEPT9.
Tag new gene name tag was added to gene: SEPT9.
Clefting disorders v0.119 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from HNA; AMYOTROPHY, HEREDITARY NEURALGIC to HNA; Amyotrophy, hereditary neuralgic, MIM# 162100
Clefting disorders v0.118 SEPT9 Zornitza Stark Publications for gene: SEPT9 were set to
Clefting disorders v0.117 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.116 SEPT9 Zornitza Stark Classified gene: SEPT9 as Amber List (moderate evidence)
Clefting disorders v0.116 SEPT9 Zornitza Stark Gene: sept9 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.115 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049, 18492087; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.22 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Pain syndromes v0.22 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Pain syndromes v0.22 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.21 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7617 SEPT9 Zornitza Stark Publications for gene: SEPT9 were set to
Mendeliome v0.7616 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7615 SEPT9 Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9.
Tag 5'UTR tag was added to gene: SEPT9.
Tag founder tag was added to gene: SEPT9.
Tag new gene name tag was added to gene: SEPT9.
Mendeliome v0.7615 SEPT9 Zornitza Stark edited their review of gene: SEPT9: Added comment: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. Multiple founder variants, including p.Arg88Trp. Also note intragenic duplication and 5'UTR variant reported, which may not be detectable by all NGS assays.; Changed publications: 16186812, 19451530, 19939853, 19139049
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Arthrogryposis v0.267 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Arthrogryposis v0.266 SLC5A7 Zornitza Stark Mode of inheritance for gene: SLC5A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.265 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 29189923, 30172469; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7615 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Mendeliome v0.7615 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Mendeliome v0.7615 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024; Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Mendeliome v0.7614 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Mendeliome v0.7613 SLC5A7 Zornitza Stark Mode of inheritance for gene: SLC5A7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7612 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141292, 15173594, 29782645, 29582019, 27569547, 29189923, 30172469; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580, MONDO:0008024, Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Classified gene: ASXL1 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.100 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Cancer Predisposition_Paediatric. Sources: Expert Review
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASXL1 were set to 29446906
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome , MIM#605039; Wilms tumour
Review for gene: ASXL1 was set to GREEN
Added comment: Case reports suggest that individuals with BOS are at greater risk for Wilms tumour than the general population.
Recommended surveillance: Renal ultrasound every three months from birth to age eight to screen for the development of Wilms tumour.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.71 ZMIZ1 Michelle Torres gene: ZMIZ1 was added
gene: ZMIZ1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659)
Review for gene: ZMIZ1 was set to GREEN
Added comment: Out of 19 individuals reported with a neurodevelopmental phenotype (16 unrelated), 4 presented hearing loss. One of these individuals (#13) also had 2 affected siblings that did not present hearing loss (#14 and #15) (PMID: 30639322).
Sources: Literature
Mendeliome v0.7612 SMN1 Zornitza Stark changed review comment from: Well established gene-disease association. Deletions common.; to: Well established gene-disease association. Deletions common. High sequence homology between SMN1 and SMN2 can make NGS data difficult to interpret.
Intellectual disability syndromic and non-syndromic v0.3769 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Intellectual disability syndromic and non-syndromic v0.3769 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3769 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from to Spastic paraplegia 11, autosomal recessive 604360
Intellectual disability syndromic and non-syndromic v0.3768 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Intellectual disability syndromic and non-syndromic v0.3767 SPG11 Zornitza Stark Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3766 SPG11 Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33581793; Phenotypes: Spastic paraplegia 11, autosomal recessive 604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.295 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Callosome v0.295 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Callosome v0.295 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477
Callosome v0.294 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Callosome v0.293 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.292 SPTAN1 Zornitza Stark Classified gene: SPTAN1 as Amber List (moderate evidence)
Callosome v0.292 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Callosome v0.291 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3766 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Intellectual disability syndromic and non-syndromic v0.3766 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3766 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477
Intellectual disability syndromic and non-syndromic v0.3765 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Intellectual disability syndromic and non-syndromic v0.3764 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3763 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1081 SPTAN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported.; to: At least 4 unrelated families reported, dominant negative mechanism postulated.
Cardiomyopathy_Paediatric v0.89 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Restrictive cardiomyopathy
Susceptibility to Viral Infections v0.75 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Susceptibility to CMV to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV
Cardiomyopathy_Paediatric v0.88 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Restrictive cardiomyopathy
Susceptibility to Viral Infections v0.74 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV
Mendeliome v0.7612 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Susceptibility to CMV; Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV; Restrictive cardiomyopathy
Mendeliome v0.7611 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV, Restrictive cardiomyopathy
Mendeliome v0.7611 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Mendeliome v0.7611 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Mendeliome v0.7611 NR3C2 Zornitza Stark Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Mendeliome v0.7610 NR3C2 Zornitza Stark Publications for gene: NR3C2 were set to
Mendeliome v0.7609 NR3C2 Zornitza Stark Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7608 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Hypertension and Aldosterone disorders v0.22 NR3C2 Zornitza Stark Publications for gene: NR3C2 were set to
Hypertension and Aldosterone disorders v0.21 NR3C2 Zornitza Stark Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark edited their review of gene: NR3C2: Changed phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark changed review comment from: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported.; to: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported. Most reported variants are LoF.
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.8 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021); MONDO:0013087
Ciliary Dyskinesia v1.7 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.6 SCNN1A Zornitza Stark Classified gene: SCNN1A as Amber List (moderate evidence)
Ciliary Dyskinesia v1.6 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.5 SCNN1A Zornitza Stark reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19462466; Phenotypes: Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021, MONDO:0013087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7608 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Mendeliome v0.7608 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Mendeliome v0.7608 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from to Liddle syndrome 3 618126, MIM# AD, MONDO:0029132; Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087; Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917
Mendeliome v0.7607 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Mendeliome v0.7606 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7605 SCNN1A Zornitza Stark reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31301676, 28710092, 19462466, 19017867; Phenotypes: Liddle syndrome 3 618126, MIM# AD, MONDO:0029132, Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087, Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7605 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Mendeliome v0.7605 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Mendeliome v0.7605 SPTLC1 Zornitza Stark Phenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Mendeliome v0.7604 SPTLC1 Zornitza Stark Publications for gene: SPTLC1 were set to
Mendeliome v0.7603 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7602 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Mendeliome v0.7602 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Mendeliome v0.7602 SPTLC2 Zornitza Stark Phenotypes for gene: SPTLC2 were changed from to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Mendeliome v0.7601 SPTLC2 Zornitza Stark Publications for gene: SPTLC2 were set to
Mendeliome v0.7600 SPTLC2 Zornitza Stark Mode of inheritance for gene: SPTLC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7599 ZPR1 Zornitza Stark Tag founder tag was added to gene: ZPR1.
Mendeliome v0.7599 ZPR1 Zornitza Stark Marked gene: ZPR1 as ready
Mendeliome v0.7599 ZPR1 Zornitza Stark Gene: zpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.7599 ZPR1 Zornitza Stark gene: ZPR1 was added
gene: ZPR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321
Review for gene: ZPR1 was set to RED
Added comment: 3 families reported with growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF). All were Hispanic families from the middle Rio Grande Valley. Homozygous missense identified in one family, p. Ile196Thr. Others unavailable for testing, founder effect postulated.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3763 SPEN Zornitza Stark Publications for gene: SPEN were set to 33057194
Intellectual disability syndromic and non-syndromic v0.3762 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies
Mendeliome v0.7598 SPEN Zornitza Stark Marked gene: SPEN as ready
Mendeliome v0.7598 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Mendeliome v0.7598 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies
Mendeliome v0.7597 SPEN Zornitza Stark Publications for gene: SPEN were set to 33057194
Mendeliome v0.7596 SPEN Zornitza Stark reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radio-Tartaglia syndrome, MIM# 619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.83 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.83 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.83 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.83 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.82 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF3 were set to 31388108; 33961779
Phenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297
Review for gene: AFF3 was set to GREEN
Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.
Sources: Literature
Microcephaly v1.13 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Microcephaly v1.13 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Microcephaly v1.13 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Microcephaly v1.13 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Microcephaly v1.12 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF3 were set to 31388108; 33961779
Phenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297
Review for gene: AFF3 was set to GREEN
Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.
Sources: Literature
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from No OMIM or G2P phenotype to KINSSHIP syndrome, MIM# 619297
Skeletal dysplasia v0.97 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Skeletal dysplasia v0.96 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.95 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Skeletal dysplasia v0.95 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.94 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3761 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Intellectual disability syndromic and non-syndromic v0.3761 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3761 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Intellectual disability syndromic and non-syndromic v0.3760 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Intellectual disability syndromic and non-syndromic v0.3759 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3758 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1081 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from Intellectual disability; seizures; hypertrichosis to KINSSHIP syndrome, MIM# 619297; Intellectual disability; seizures; hypertrichosis
Genetic Epilepsy v0.1080 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Genetic Epilepsy v0.1079 AFF3 Zornitza Stark edited their review of gene: AFF3: Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.; Changed publications: 31388108, 33961779; Changed phenotypes: KINSSHIP syndrome, MIM# 619297, Intellectual disability, seizures, hypertrichosis
Mendeliome v0.7596 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Mendeliome v0.7596 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Mendeliome v0.7596 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Mendeliome v0.7595 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Mendeliome v0.7594 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7593 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Hypertrichosis syndromes v0.26 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Hypertrichosis syndromes v0.25 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.24 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.30 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090 to Myopathic EDS; Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090
Aortopathy_Connective Tissue Disorders v1.29 COL6A2 Zornitza Stark Publications for gene: COL6A2 were set to (PMID: 29277723; 24443028)
Aortopathy_Connective Tissue Disorders v1.28 COL6A2 Zornitza Stark Classified gene: COL6A2 as Red List (low evidence)