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Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Renal Ciliopathies and Nephronophthisis v0.284 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Renal Ciliopathies and Nephronophthisis v0.283 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.282 TCTN2 Zornitza Stark changed review comment from: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model. Renal abnormalities are part of the Meckel phenotype.
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173
Renal Ciliopathies and Nephronophthisis v0.281 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Renal Ciliopathies and Nephronophthisis v0.280 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.279 TCTN1 Zornitza Stark Classified gene: TCTN1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.279 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.278 TCTN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported, mouse model.; to: At least 4 unrelated families reported with JBTS, mouse model. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.278 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.277 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Renal Ciliopathies and Nephronophthisis v0.276 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.276 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804
Renal Ciliopathies and Nephronophthisis v0.273 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Renal Ciliopathies and Nephronophthisis v0.272 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark changed review comment from: XLD. Polydactyly is a rare feature. Primarily facial/neurological features.; to: Gene is associated with multiple ciliopathy phenotypes but renal involvement reported with JBTS/OFD.
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 19800048, 22353940
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: GREEN; Changed phenotypes: Orofaciodigital syndrome I, MIM# 311200, Joubert syndrome 10, MIM# 300804; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Renal Ciliopathies and Nephronophthisis v0.270 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Renal Ciliopathies and Nephronophthisis v0.269 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.268 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.267 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Renal Ciliopathies and Nephronophthisis v0.266 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark changed review comment from: Well established ciliopathy gene, two families reported with BBS phenotype.; to: Well established ciliopathy gene, two families reported with BBS phenotype and renal cysts are a prominent feature of Meckel syndrome.
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark edited their review of gene: MKS1: Changed publications: 18327255, 24608809, 17377820; Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441, Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Marked gene: MKKS as ready
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700
Renal Ciliopathies and Nephronophthisis v0.264 MKKS Zornitza Stark Publications for gene: MKKS were set to
Renal Ciliopathies and Nephronophthisis v0.263 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.262 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Gene: kif7 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990
Renal Ciliopathies and Nephronophthisis v0.261 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.260 KIF7 Zornitza Stark Classified gene: KIF7 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.260 KIF7 Zornitza Stark Gene: kif7 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.259 KIF7 Zornitza Stark changed review comment from: Polydactyly is a feature of acrocallosal syndrome, but overall predominantly neurological presentation.; to: Overall predominantly neurological presentation.
Renal Ciliopathies and Nephronophthisis v0.259 KIF7 Zornitza Stark edited their review of gene: KIF7: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Short-rib skeletal dysplasia; Orofaciodigital syndrome XV, MIM# 617127; Jeune ATD
Renal Ciliopathies and Nephronophthisis v0.258 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Renal Ciliopathies and Nephronophthisis v0.257 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.256 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.256 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark changed review comment from: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype.
Sources: Expert list; to: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype, one with OFD, and one with Jeune. Only the individual with OFD is reported to have had renal involvement (hydronephrosis) which may or may not be considered part of a ciliopathy phenotype.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127, Jeune ATD
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951, 31816441
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951; Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Joubert syndrome 23, MIM# 616490
Renal Ciliopathies and Nephronophthisis v0.254 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Renal Ciliopathies and Nephronophthisis v0.253 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark changed review comment from: Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.; to: Multiple families reported with JBTS/ATD phenotype. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed publications: 26166481, 26096313, 29146704
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481, 26096313; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome 23, MIM# 616490
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.9 KIAA0556 Zornitza Stark gene: KIAA0556 was added
gene: KIAA0556 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
new gene name tags were added to gene: KIAA0556.
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 26714646; 27245168
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784
Review for gene: KIAA0556 was set to GREEN
Added comment: 5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Sources: Expert Review
Amelogenesis imperfecta v0.1 KCNJ1 Meaghan Wall changed review comment from: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous mutation of exon 5 of the KCNJ1.; to: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous variant in exon 5 of KCNJ1.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Red List (Low Evidence).
Mendeliome v0.8344 KIAA0556 Zornitza Stark changed review comment from: 5 individuals from two families reported, supportive mouse model.; to: 5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Mendeliome v0.8344 KIAA0556 Zornitza Stark Tag new gene name tag was added to gene: KIAA0556.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784
Amelogenesis imperfecta v0.1 KCNJ1 Meaghan Wall reviewed gene: KCNJ1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23341834; Phenotypes: Amelogenesis imperfecta, Bartter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8344 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Mendeliome v0.8344 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Mendeliome v0.8344 KIAA0556 Zornitza Stark Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784
Mendeliome v0.8343 KIAA0556 Zornitza Stark Publications for gene: KIAA0556 were set to
Mendeliome v0.8342 KIAA0556 Zornitza Stark Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8341 KIAA0556 Zornitza Stark reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.250 KIAA0556 Zornitza Stark Publications for gene: KIAA0556 were set to
Renal Ciliopathies and Nephronophthisis v0.249 KIAA0556 Zornitza Stark Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.248 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.248 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.247 KIAA0556 Zornitza Stark reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099
Renal Ciliopathies and Nephronophthisis v0.246 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Renal Ciliopathies and Nephronophthisis v0.245 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.244 IFT43 Zornitza Stark changed review comment from: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; to: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia. Renal involvement including nephronophthisis/cysts in both.
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996
Renal Ciliopathies and Nephronophthisis v0.243 IFT27 Zornitza Stark Publications for gene: IFT27 were set to
Renal Ciliopathies and Nephronophthisis v0.242 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v1.3 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964
Mendeliome v0.8341 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v1.6 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781
Amelogenesis imperfecta v0.1 AMTN Meaghan Wall changed review comment from: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- in mice did not recapitulate the human phenotype.; to: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- mice did not recapitulate the human phenotype.
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964
Renal Ciliopathies and Nephronophthisis v0.239 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Amelogenesis imperfecta v0.1 AMTN Meaghan Wall reviewed gene: AMTN: Rating: ; Mode of pathogenicity: Other; Publications: PMID: 27412008, 25715379, 26620968; Phenotypes: hypomineralised amelogenesis imperfecta, ?Amelogenesis imperfecta, type IIIB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v0.238 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.237 IFT140 Zornitza Stark edited their review of gene: IFT140: Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964
Renal Ciliopathies and Nephronophthisis v0.237 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Renal Ciliopathies and Nephronophthisis v0.236 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Renal Ciliopathies and Nephronophthisis v0.235 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.234 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.54 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Skeletal Ciliopathies v1.2 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Mendeliome v0.8340 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# MIM#218330 to Cranioectodermal dysplasia 1, MIM# MIM#218330; MONDO:0021093
Craniosynostosis v1.23 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1 MIM#218330 to Cranioectodermal dysplasia 1 MIM#218330; MONDO:0021093
Ciliopathies v1.5 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Renal Ciliopathies and Nephronophthisis v0.234 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330 to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330
Renal Ciliopathies and Nephronophthisis v0.232 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Renal Ciliopathies and Nephronophthisis v0.231 IFT122 Zornitza Stark Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.230 IFT122 Zornitza Stark reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 28370949, 33717254, 26792575; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8339 LINGO4 Zornitza Stark Marked gene: LINGO4 as ready
Mendeliome v0.8339 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Mendeliome v0.8339 LINGO4 Zornitza Stark Classified gene: LINGO4 as Green List (high evidence)
Mendeliome v0.8339 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Marked gene: LINGO4 as ready
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Classified gene: LINGO4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3980 LINGO1 Zornitza Stark edited their review of gene: LINGO1: Changed rating: AMBER
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Marked gene: ARFGEF3 as ready
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Green List (High Evidence).
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Classified gene: ARFGEF3 as Green List (high evidence)
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark reviewed gene: IMPDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark Marked gene: IMPDH2 as ready
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark Phenotypes for gene: IMPDH2 were changed from to Neurodevelopmental disorder with dystonia
Intellectual disability syndromic and non-syndromic v0.3979 IMPDH2 Zornitza Stark Classified gene: IMPDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3979 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Mendeliome v0.8337 IMPDH2 Zornitza Stark Marked gene: IMPDH2 as ready
Mendeliome v0.8337 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Mendeliome v0.8337 IMPDH2 Zornitza Stark Phenotypes for gene: IMPDH2 were changed from Dystonia to Neurodevelopmental disorder with dystonia
Mendeliome v0.8336 IMPDH2 Zornitza Stark Classified gene: IMPDH2 as Green List (high evidence)
Mendeliome v0.8336 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.185 IMPDH2 Zornitza Stark Marked gene: IMPDH2 as ready
Dystonia and Chorea v0.185 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.185 IMPDH2 Zornitza Stark Phenotypes for gene: IMPDH2 were changed from Dystonia to Neurodevelopmental disorder with dystonia
Dystonia and Chorea v0.184 IMPDH2 Zornitza Stark Classified gene: IMPDH2 as Green List (high evidence)
Dystonia and Chorea v0.184 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Mendeliome v0.8335 LINGO4 Laura Raiti gene: LINGO4 was added
gene: LINGO4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO4 were set to PMID: 33098801
Phenotypes for gene: LINGO4 were set to Developmental Delay, Intellectual disability, speech disorder
Review for gene: LINGO4 was set to GREEN
Added comment: 3 unrelated individuals
1 x individual compound heterozygous for 2x missense variants:
c.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln comp het. Phenotype: infancy-onset
generalized dystonia; DD/hypo, ID, speech disorder (isolated plus non-MD symptoms) NDD

1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: DD/hypo, ID, speech disorder

1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: DD/hypo, ID, speech disorder
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 LINGO4 Laura Raiti gene: LINGO4 was added
gene: LINGO4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO4 were set to PMID: 33098801
Phenotypes for gene: LINGO4 were set to Developmental Delay, Intellectual disability, speech disorder
Review for gene: LINGO4 was set to GREEN
Added comment: 3 unrelated individuals
1 x individual compound heterozygous for 2x missense variants:
c.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln comp het. Phenotype: infancy-onset
generalized dystonia; DD/hypo, ID, speech disorder (isolated plus non-MD symptoms) NDD

1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: DD/hypo, ID, speech disorder

1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: DD/hypo, ID, speech disorder
Sources: Literature
Mendeliome v0.8335 ARFGEF3 Laura Raiti gene: ARFGEF3 was added
gene: ARFGEF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARFGEF3 were set to PMID: 33098801
Phenotypes for gene: ARFGEF3 were set to Dystonia
Review for gene: ARFGEF3 was set to GREEN
Added comment: 3 x unrelated individuals
1 x de novo missense variant: c.6212T>C p.Met2071Thr, phenotype: infancy-onset generalized dystonia (isolated)
1x stop-gain variant c.1773T>G p.Tyr591* (inherited from mosaic mother), phenotype: infancy-onset generalized dystonia (isolated)
1 x de novo missense variant (Gene Matcher) c.250A>C p.Met84Leu childhood-onset generalized dystonia (isolated)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 IMPDH2 Laura Raiti gene: IMPDH2 was added
gene: IMPDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to PMID: 33098801
Added comment: 6 unrelated individuals
1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.
IMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition.
1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified:
3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)
1 x deletion: c.478_480delTCC (p.Ser160del)
The six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.
The described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.

The variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2.
Sources: Literature
Mendeliome v0.8335 IMPDH2 Laura Raiti gene: IMPDH2 was added
gene: IMPDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to PMID: 33098801
Phenotypes for gene: IMPDH2 were set to Dystonia
Review for gene: IMPDH2 was set to GREEN
Added comment: 6 unrelated individuals
1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.
IMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition.
1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified:
3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)
1 x deletion: c.478_480delTCC (p.Ser160del)
The six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.
The described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.

The variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2.
Sources: Literature
Dystonia and Chorea v0.183 IMPDH2 Laura Raiti gene: IMPDH2 was added
gene: IMPDH2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to PMID: 33098801
Phenotypes for gene: IMPDH2 were set to Dystonia
Review for gene: IMPDH2 was set to GREEN
Added comment: 6 unrelated individuals
1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.
IMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition.
1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified:
3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)
1 x deletion: c.478_480delTCC (p.Ser160del)
The six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.
The described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.

The variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v0.229 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Renal Ciliopathies and Nephronophthisis v0.228 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.227 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.
Renal Ciliopathies and Nephronophthisis v0.227 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113; Changed phenotypes: Bardet-Biedl syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v0.227 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127MONDO:0013127
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127
Mendeliome v0.8335 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340; 23456818; 27925158
Mendeliome v0.8334 DYNC2H1 Zornitza Stark changed review comment from: More than 50 unrelated families reported.; to: More than 50 unrelated families reported with predominantly skeletal dysplasia.

Association with RP: - Five affected probands with homozygous and compound heterozygous missense and PTC variants - Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies). PMID 32753734
Mendeliome v0.8334 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734; Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127, Non-syndromic retinitis pigmentosa
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Green List (high evidence)
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Renal Ciliopathies and Nephronophthisis v0.225 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Renal Ciliopathies and Nephronophthisis v0.224 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.223 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730820; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8334 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Mendeliome v0.8333 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Heterotaxy v1.8 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Heterotaxy v1.7 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Ciliary Dyskinesia v1.10 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Ciliary Dyskinesia v1.9 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Mendeliome v0.8333 KIF20A Zornitza Stark Marked gene: KIF20A as ready
Mendeliome v0.8333 KIF20A Zornitza Stark Gene: kif20a has been classified as Red List (Low Evidence).
Mendeliome v0.8333 KIF20A Zornitza Stark edited their review of gene: KIF20A: Changed rating: RED
Mendeliome v0.8333 KIF20A Zornitza Stark gene: KIF20A was added
gene: KIF20A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF20A were set to 29357359
Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433
Review for gene: KIF20A was set to GREEN
Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark Marked gene: KIF20A as ready
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark Gene: kif20a has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark gene: KIF20A was added
gene: KIF20A was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF20A were set to 29357359
Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433
Review for gene: KIF20A was set to RED
Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Gastrointestinal neuromuscular disease v0.41 ACTG2 Zornitza Stark Publications for gene: ACTG2 were set to
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark edited their review of gene: ACTG2: Added comment: More than 20 unrelated families reported.; Changed publications: 24676022, 26647307
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Visceral myopathy, 155310 to Visceral myopathy, 155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Gastrointestinal neuromuscular disease v0.39 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.38 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8332 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Visceral myopathy, MIM#155310 to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Mendeliome v0.8331 ACTG2 Zornitza Stark edited their review of gene: ACTG2: Changed phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Combined Immunodeficiency v0.208 ADA Zornitza Stark Marked gene: ADA as ready
Combined Immunodeficiency v0.208 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.208 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Combined Immunodeficiency v0.207 ADA Zornitza Stark Publications for gene: ADA were set to
Combined Immunodeficiency v0.206 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.205 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Gene: cep41 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Renal Ciliopathies and Nephronophthisis v0.222 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Renal Ciliopathies and Nephronophthisis v0.221 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.220 CEP41 Zornitza Stark Classified gene: CEP41 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.220 CEP41 Zornitza Stark Gene: cep41 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.205 B2M Zornitza Stark Phenotypes for gene: B2M were changed from Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434 to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434
Mendeliome v0.8331 B2M Zornitza Stark Marked gene: B2M as ready
Mendeliome v0.8331 B2M Zornitza Stark Gene: b2m has been classified as Green List (High Evidence).
Mendeliome v0.8331 B2M Zornitza Stark Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434; Amyloidosis, familial visceral, MIM# 105200
Mendeliome v0.8330 B2M Zornitza Stark Publications for gene: B2M were set to
Mendeliome v0.8329 B2M Zornitza Stark Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8328 B2M Zornitza Stark reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007, 22693999; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c, MONDO:0009434, Amyloidosis, familial visceral, MIM# 105200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.204 B2M Zornitza Stark Marked gene: B2M as ready
Combined Immunodeficiency v0.204 B2M Zornitza Stark Gene: b2m has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.204 B2M Zornitza Stark Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434
Combined Immunodeficiency v0.203 B2M Zornitza Stark Publications for gene: B2M were set to
Combined Immunodeficiency v0.202 B2M Zornitza Stark Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.201 B2M Danielle Ariti reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, - Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Senior-Loken syndrome 6, MIM# 610189
Renal Ciliopathies and Nephronophthisis v0.218 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Renal Ciliopathies and Nephronophthisis v0.217 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies, including Senior-Loken syndrome/nephronophthisis.
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 32208788; Changed phenotypes: Senior-Loken syndrome 6, MIM# 610189
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Marked gene: AK2 as ready
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Classified gene: AK2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.84 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973
Review for gene: AK2 was set to GREEN
Added comment: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature
Mendeliome v0.8328 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Mendeliome v0.8327 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416
Mendeliome v0.8326 AK2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Mendeliome v0.8326 AK2 Zornitza Stark edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973
Mendeliome v0.8326 AK2 Zornitza Stark edited their review of gene: AK2: Changed publications: 19043416, 19043417
Bone Marrow Failure v1.2 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416; 19043417
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416; 19043417
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416
Bone Marrow Failure v1.0 AK2 Zornitza Stark edited their review of gene: AK2: Changed publications: 19043416, 19043417
Bone Marrow Failure v1.0 AK2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Bone Marrow Failure v1.0 AK2 Zornitza Stark edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973
Combined Immunodeficiency v0.201 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Marked gene: AK2 as ready
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness
Combined Immunodeficiency v0.199 AK2 Zornitza Stark Publications for gene: AK2 were set to
Combined Immunodeficiency v0.198 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.197 AK2 Danielle Ariti changed review comment from: PMID: 19043417. 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416. 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.; to: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature
Combined Immunodeficiency v0.197 AK2 Danielle Ariti reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis MIM# 267500, Combined immunodeficiency, neutropenia, leukopenia, lymphopenia, agranulocytosis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary angioedema v1.1 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Hereditary angioedema v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary angioedema v0.17 SERPING1 Zornitza Stark Marked gene: SERPING1 as ready
Hereditary angioedema v0.17 SERPING1 Zornitza Stark Gene: serping1 has been classified as Green List (High Evidence).
Hereditary angioedema v0.17 SERPING1 Zornitza Stark Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM# 106100
Hereditary angioedema v0.16 SERPING1 Zornitza Stark Mode of inheritance for gene: SERPING1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary angioedema v0.15 SERPING1 Zornitza Stark reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angioedema, hereditary, 1 and 2, MIM# 106100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary angioedema v0.15 F12 Zornitza Stark Marked gene: F12 as ready
Hereditary angioedema v0.15 F12 Zornitza Stark Gene: f12 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.15 F12 Zornitza Stark Phenotypes for gene: F12 were changed from to Angioedema, hereditary, 3, MIM# 610618
Hereditary angioedema v0.14 F12 Zornitza Stark Publications for gene: F12 were set to
Hereditary angioedema v0.13 F12 Zornitza Stark Tag founder tag was added to gene: F12.
Hereditary angioedema v0.13 F12 Zornitza Stark Classified gene: F12 as Amber List (moderate evidence)
Hereditary angioedema v0.13 F12 Zornitza Stark Gene: f12 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.12 F12 Zornitza Stark reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: None; Publications: 16638441, 17186468, 19178938; Phenotypes: Angioedema, hereditary, 3, MIM# 610618; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Gene: cep104 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Renal Ciliopathies and Nephronophthisis v0.215 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.214 CEP104 Zornitza Stark Classified gene: CEP104 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.214 CEP104 Zornitza Stark Gene: cep104 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.213 CEP104 Zornitza Stark reviewed gene: CEP104: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 25, MIM# 616781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Meckel syndrome 6, MIM# 612284
Renal Ciliopathies and Nephronophthisis v0.212 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.211 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 6, MIM# 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981
Renal Ciliopathies and Nephronophthisis v0.210 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Renal Ciliopathies and Nephronophthisis v0.209 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.208 BBS2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Renal Ciliopathies and Nephronophthisis v0.207 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Renal Ciliopathies and Nephronophthisis v0.206 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.205 BBS12 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Renal Ciliopathies and Nephronophthisis v0.204 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Renal Ciliopathies and Nephronophthisis v0.203 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.202 BBS10 Zornitza Stark changed review comment from: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients; to: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients. Renal anomalies, including cysts reported.
Optic Atrophy v1.0 Zornitza Stark promoted panel to version 1.0
Optic Atrophy v0.140 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Optic Atrophy v0.140 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Optic Atrophy v0.140 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000
Optic Atrophy v0.139 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.138 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome, MIM# 125250, Behr syndrome, MIM# 210000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8326 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Mendeliome v0.8326 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Mendeliome v0.8326 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from to Optic atrophy 7, MIM# 612989; MONDO:0013069; Syndromic auditory neuropathy spectrum disorder
Mendeliome v0.8325 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Mendeliome v0.8324 TMEM126A Zornitza Stark Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8323 TMEM126A Zornitza Stark reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989, MONDO:0013069, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.138 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Optic Atrophy v0.138 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Optic Atrophy v0.138 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from to Optic atrophy 7, MIM# 612989; MONDO:0013069
Optic Atrophy v0.137 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Optic Atrophy v0.136 TMEM126A Zornitza Stark Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.135 TMEM126A Zornitza Stark reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.34 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Microcephaly v1.34 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Microcephaly v1.34 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Microcephaly v1.34 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Mendeliome v0.8323 MYC Zornitza Stark Marked gene: MYC as ready
Mendeliome v0.8323 MYC Zornitza Stark Gene: myc has been classified as Red List (Low Evidence).
Mendeliome v0.8323 MYC Zornitza Stark Phenotypes for gene: MYC were changed from to Burkitt lymphoma, somatic, MIM# 113970
Mendeliome v0.8322 MYC Zornitza Stark Mode of inheritance for gene: MYC was changed from Unknown to Other
Mendeliome v0.8321 MYC Zornitza Stark Classified gene: MYC as Red List (low evidence)
Mendeliome v0.8321 MYC Zornitza Stark Gene: myc has been classified as Red List (Low Evidence).
Mendeliome v0.8320 MYC Zornitza Stark reviewed gene: MYC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burkitt lymphoma, somatic, MIM# 113970; Mode of inheritance: Other
Microcephaly v1.33 SPATA5 Elena Savva gene: SPATA5 was added
gene: SPATA5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to PMID: 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Review for gene: SPATA5 was set to GREEN
Added comment: PMID: 26299366 - 12/14 patients presented with microcephaly, incl 4x with congenital microcephaly and another 4 with acquired microcephaly
Sources: Literature
Metal Metabolism Disorders v0.23 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Monogenic Diabetes v0.21 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Mendeliome v0.8318 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Optic Atrophy v0.135 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Optic Atrophy v0.135 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Optic Atrophy v0.135 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.135 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Optic Atrophy v0.135 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.134 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3977 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Ataxia v0.287 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Ataxia v0.287 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Ataxia v0.287 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Ataxia v0.287 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Ataxia v0.286 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Mendeliome v0.8318 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Mendeliome v0.8318 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Mendeliome v0.8318 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Mendeliome v0.8318 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Mendeliome v0.8318 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Mendeliome v0.8317 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.
Sources: Literature
Mendeliome v0.8316 ADA Zornitza Stark Marked gene: ADA as ready
Mendeliome v0.8316 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Mendeliome v0.8316 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Mendeliome v0.8315 ADA Zornitza Stark Publications for gene: ADA were set to
Mendeliome v0.8314 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8313 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.226 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Leukodystrophy v0.226 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Leukodystrophy v0.226 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Leukodystrophy v0.226 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Leukodystrophy v0.225 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Autoinflammatory Disorders v0.114 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Genetic Epilepsy v0.1141 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Genetic Epilepsy v0.1141 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1140 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mendeliome v0.8313 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Mendeliome v0.8313 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mendeliome v0.8313 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Mendeliome v0.8313 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3975 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mendeliome v0.8312 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.640 C2orf69 Zornitza Stark edited their review of gene: C2orf69: Changed publications: 34038740, 33945503
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Publications for gene: C2orf69 were set to 34038740
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.638 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3974 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature; no OMIM number yet to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature
Intellectual disability syndromic and non-syndromic v0.3973 KDM3B Zornitza Stark reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature, Intellectual disability, short stature, deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.83 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature; deafness to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Deafness_IsolatedAndComplex v1.82 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, short stature, deafness
Mendeliome v0.8311 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature
Mendeliome v0.8310 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from to Diets-Jongmans syndrome, MIM# 618846; Cancer predisposition
Cancer Predisposition_Paediatric v0.104 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Cancer Predisposition_Paediatric v0.104 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.8310 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Mendeliome v0.8310 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8310 NYNRIN Zornitza Stark Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition
Mendeliome v0.8309 NYNRIN Zornitza Stark Classified gene: NYNRIN as Amber List (moderate evidence)
Mendeliome v0.8309 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition
Cancer Predisposition_Paediatric v0.102 NYNRIN Zornitza Stark Classified gene: NYNRIN as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.102 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8308 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome to FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition
Mendeliome v0.8307 FBXW7 Zornitza Stark Publications for gene: FBXW7 were set to 33057194
Mendeliome v0.8306 FBXW7 Zornitza Stark reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30885698, 26482194; Phenotypes: Wilms tumour predisposition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.101 KDM3B Laura Raiti gene: KDM3B was added
gene: KDM3B was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30885698; 29351919
Review for gene: KDM3B was set to GREEN
Added comment: PMID: 30885698
2 two de-novo KDM3B mutations identified.
- 1 child (missense mutation) with Wilms tumour and a hyperpigmented lesion on her
buttock
- 1 child (truncating variant) with hepatoblastoma, hyperpigmentation and hypopigmentation, autism, and intellectual disability

PMID: 29351919
2 individuals with KDM3B variants
- 1 individual had a KDM3B truncating variant with acute myeloid leukaemia, mild intellectual disability, and hip dysplasia
- 1 individual had a de novo missense KDM3B with Hodgkins lymphoma and
moderate intellectual disability.
KDM3B is highly intolerant to both protein-truncating variants (pLI=1·00)
and non-synonymous variation (Z=4·99; the Z score is the
deviation of observation from expectation for non-synonymous variants).

KDM3B is involved in H3K9 demethylation, which is part of chromatin remodeling. Mutations in several components of chromatin remodeling pathways have been found to cause both syndromes characterized by ID and syndromes with cancer predisposition
Sources: Literature
Mendeliome v0.8306 NYNRIN Laura Raiti gene: NYNRIN was added
gene: NYNRIN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NYNRIN were set to PMID: 30885698
Review for gene: NYNRIN was set to AMBER
Added comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family).
Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations.
One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability.
Sources: Literature
Cancer Predisposition_Paediatric v0.101 NYNRIN Laura Raiti gene: NYNRIN was added
gene: NYNRIN was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NYNRIN were set to PMID: 30885698
Review for gene: NYNRIN was set to AMBER
Added comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family).
Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations.
One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability.
Sources: Literature
Cancer Predisposition_Paediatric v0.101 FBXW7 Laura Raiti gene: FBXW7 was added
gene: FBXW7 was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to PMID: 30885698; PMID: 26482194
Review for gene: FBXW7 was set to GREEN
Added comment: PMID: 30885698
4 individuals with germline truncating variants in FBXW7. Highly intolerant to protein-truncating variants with pLI score= 1.
- 1 individual developed a second malignancy (osteosarcoma) as an adult in addition to childhood Wilms tumour.
- 1 individual had a de novo missense variant (a child with an extra-renal rhabdoid tumour)

PMID: 26482194
1 patient with Hodgkin lymphoma, adult Wilms tumour, early-onset breast cancer, and a constitutional FBXW7 deletion was reported
Sources: Literature
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Marked gene: YARS as ready
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.81 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3973 YARS Zornitza Stark Phenotypes for gene: YARS were changed from Intellectual disability; deafness; nystagmus; liver dysfunction to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Intellectual disability syndromic and non-syndromic v0.3972 YARS Zornitza Stark edited their review of gene: YARS: Changed phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Mendeliome v0.8306 YARS Zornitza Stark Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Bi-allelic variants: ID, deafness, nystagmus to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012; Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Mendeliome v0.8305 YARS Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: Mono-allelic disease: More than 5 unrelated families reported.
Mendeliome v0.8305 YARS Zornitza Stark edited their review of gene: YARS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8305 YARS Zornitza Stark edited their review of gene: YARS: Changed phenotypes: Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323, MONDO:0012012, Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Renal Ciliopathies and Nephronophthisis v0.201 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Renal Ciliopathies and Nephronophthisis v0.200 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.199 BBS1 Zornitza Stark changed review comment from: Well established gene-disease association.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities reported.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.
Intellectual disability syndromic and non-syndromic v0.3972 ERGIC3 Zornitza Stark Phenotypes for gene: ERGIC3 were changed from 33710394; 31585110 to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3971 ERGIC3 Zornitza Stark Publications for gene: ERGIC3 were set to ERGIC3
Intellectual disability syndromic and non-syndromic v0.3970 ERGIC3 Zornitza Stark reviewed gene: ERGIC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33710394, 31585110; Phenotypes: Intellectual disability; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3970 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to 21734151; 33710394
Intellectual disability syndromic and non-syndromic v0.3969 ZC3H14 Zornitza Stark reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: 28666327; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8305 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to 21734151; 28666327
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Added comment: PMID: 33710394
1 Finnish family with a hom splice variant, severe ID. Classed a VUS. No functional evidence; Changed publications: 21734151, 28666327, 33710394
Mendeliome v0.8304 ZC3H14 Zornitza Stark Deleted their comment
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Added comment: Two families and a mouse model.; Changed phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Changed publications: 21734151, 28666327
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8304 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to 21734151
Mendeliome v0.8303 ZC3H14 Zornitza Stark Mode of inheritance for gene: ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8302 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Mendeliome v0.8302 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.107 DLX5 Zornitza Stark Mode of inheritance for gene: DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.106 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Marked gene: RNF2 as ready
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Classified gene: RNF2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1138 RNF2 Zornitza Stark gene: RNF2 was added
gene: RNF2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376
Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation
Review for gene: RNF2 was set to AMBER
Added comment: Not associated with any phenotype in OMIM. PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Marked gene: RNF2 as ready
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Classified gene: RNF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3968 RNF2 Zornitza Stark gene: RNF2 was added
gene: RNF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376
Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation
Review for gene: RNF2 was set to AMBER
Added comment: Not associated with any phenotype in OMIM. PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Mendeliome v0.8302 RNF2 Zornitza Stark Marked gene: RNF2 as ready
Mendeliome v0.8302 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8302 RNF2 Zornitza Stark Classified gene: RNF2 as Amber List (moderate evidence)
Mendeliome v0.8302 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3967 RING1 Zornitza Stark Marked gene: RING1 as ready
Intellectual disability syndromic and non-syndromic v0.3967 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3967 RING1 Zornitza Stark gene: RING1 was added
gene: RING1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RING1 were set to 29386386
Phenotypes for gene: RING1 were set to microcephaly; intellectual disability
Review for gene: RING1 was set to RED
Added comment: Not associated with any phenotype in OMIM. PMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Early motor and language development were normal but were delayed after the first year of life. Cognitive testing showed a verbal IQ of 55 and a visual performance IQ of 63. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance.
Sources: Literature
Mendeliome v0.8301 RING1 Zornitza Stark Marked gene: RING1 as ready
Mendeliome v0.8301 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Mendeliome v0.8301 RING1 Zornitza Stark Classified gene: RING1 as Red List (low evidence)
Mendeliome v0.8301 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Classified gene: IRX5 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.28 IRX5 Zornitza Stark gene: IRX5 was added
gene: IRX5 was added to Cone-rod Dystrophy. Sources: Literature
SV/CNV tags were added to gene: IRX5.
Mode of inheritance for gene: IRX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX5 were set to 33891002; 28041643; 32045705; 22581230; 17230486
Phenotypes for gene: IRX5 were set to cone dystrophy, MONDO:0000455
Mode of pathogenicity for gene: IRX5 was set to Other
Review for gene: IRX5 was set to AMBER
Added comment: Evidence from CNVs only

Duplication of gene
-------------------
PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Loss of function/gene
---------
PMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.

PMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3966 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Intellectual disability syndromic and non-syndromic v0.3966 IRX5 Zornitza Stark Gene: irx5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3966 IRX5 Zornitza Stark Phenotypes for gene: IRX5 were changed from to Hamamy syndrome, MIM# 611174
Intellectual disability syndromic and non-syndromic v0.3965 IRX5 Zornitza Stark Publications for gene: IRX5 were set to
Intellectual disability syndromic and non-syndromic v0.3964 IRX5 Zornitza Stark Mode of inheritance for gene: IRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3963 IRX5 Zornitza Stark Classified gene: IRX5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3963 IRX5 Zornitza Stark Gene: irx5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3962 IRX5 Zornitza Stark reviewed gene: IRX5: Rating: RED; Mode of pathogenicity: None; Publications: 22581230, 27453922; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8300 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Mendeliome v0.8300 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8300 IRX5 Zornitza Stark Tag SV/CNV tag was added to gene: IRX5.
Mendeliome v0.8300 IRX5 Zornitza Stark Phenotypes for gene: IRX5 were changed from to Hamamy syndrome, MIM# 611174; cone dystrophy, MONDO:0000455
Mendeliome v0.8299 IRX5 Zornitza Stark Publications for gene: IRX5 were set to
Mendeliome v0.8298 IRX5 Zornitza Stark Mode of inheritance for gene: IRX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8297 IRX5 Zornitza Stark Classified gene: IRX5 as Amber List (moderate evidence)
Mendeliome v0.8297 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8296 IRX5 Zornitza Stark edited their review of gene: IRX5: Changed rating: AMBER
Mendeliome v0.8296 IRX5 Zornitza Stark reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581230, 27453922; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.27 IRX6 Zornitza Stark Mode of pathogenicity for gene: IRX6 was changed from None to Other
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Marked gene: IRX6 as ready
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Classified gene: IRX6 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.25 IRX6 Zornitza Stark Tag SV/CNV tag was added to gene: IRX6.
Cone-rod Dystrophy v0.25 IRX6 Zornitza Stark gene: IRX6 was added
gene: IRX6 was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX6 were set to 33891002
Phenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455
Review for gene: IRX6 was set to AMBER
Added comment: PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Evidence from CNVs only, two genes included.
Sources: Literature
Mendeliome v0.8296 IRX6 Zornitza Stark reviewed gene: IRX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8296 IRX6 Zornitza Stark Marked gene: IRX6 as ready
Mendeliome v0.8296 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8296 IRX6 Zornitza Stark Classified gene: IRX6 as Amber List (moderate evidence)
Mendeliome v0.8296 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3962 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Intellectual disability syndromic and non-syndromic v0.3962 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3962 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Intellectual disability syndromic and non-syndromic v0.3961 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Intellectual disability syndromic and non-syndromic v0.3960 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3959 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520, 23420520, 30730599; Phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8295 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Mendeliome v0.8294 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520
Mendeliome v0.8293 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.

Martsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.
Mendeliome v0.8293 RAB3GAP1 Zornitza Stark edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420
Cataract v0.284 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Cataract v0.283 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520
Cataract v0.282 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.

Martsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.
Cataract v0.282 RAB3GAP1 Zornitza Stark edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420
Mendeliome v0.8293 CXCR2 Zornitza Stark Marked gene: CXCR2 as ready
Mendeliome v0.8293 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Red List (Low Evidence).
Mendeliome v0.8293 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2, 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Expert list
Phagocyte Defects v0.67 CXCR2 Zornitza Stark Marked gene: CXCR2 as ready
Phagocyte Defects v0.67 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.67 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Expert list
Complement Deficiencies v0.36 C4A Bryony Thompson Tag for review tag was added to gene: C4A.
Complement Deficiencies v0.36 C4B Bryony Thompson Tag for review tag was added to gene: C4B.
Mendeliome v0.8292 RING1 Eleanor Williams gene: RING1 was added
gene: RING1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RING1 were set to 29386386
Phenotypes for gene: RING1 were set to microcephaly; intellectual disability
Review for gene: RING1 was set to RED
Added comment: Not associated with any phenotype in OMIM.

PMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Early motor and language development were normal but were delayed after the first year of life. Cognitive testing showed a verbal IQ of 55 and a visual performance IQ of 63. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance.
Sources: Literature
Mendeliome v0.8292 RNF2 Eleanor Williams gene: RNF2 was added
gene: RNF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF2 were set to 33864376
Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation
Review for gene: RNF2 was set to AMBER
Added comment: Not associated with any phenotype in OMIM.

PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Mendeliome v0.8292 IRX5 Eleanor Williams edited their review of gene: IRX5: Changed publications: 33891002, 28041643, 32045705, 22581230, 17230486; Changed phenotypes: cone dystrophy, MONDO:0000455, retinitis pigmentosa, MONDO:0019200
Mendeliome v0.8292 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)

Duplication of gene
-------------------
PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Loss of function/gene
---------
PMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.

PMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).
Mendeliome v0.8292 IRX6 Eleanor Williams changed review comment from: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.
Sources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.
Sources: Literature
Mendeliome v0.8292 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Mendeliome v0.8292 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3959 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Intellectual disability syndromic and non-syndromic v0.3959 GNB2 Zornitza Stark Gene: gnb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3959 GNB2 Zornitza Stark Publications for gene: GNB2 were set to 31698099
Intellectual disability syndromic and non-syndromic v0.3958 GNB2 Zornitza Stark Classified gene: GNB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3958 GNB2 Zornitza Stark Gene: gnb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3957 GNB2 Zornitza Stark reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358, 33057194; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8292 GNB2 Zornitza Stark Publications for gene: GNB2 were set to 31698099
Mendeliome v0.8291 GNB2 Zornitza Stark Classified gene: GNB2 as Green List (high evidence)
Mendeliome v0.8291 GNB2 Zornitza Stark Gene: gnb2 has been classified as Green List (High Evidence).
Mendeliome v0.8290 GNB2 Zornitza Stark reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.304 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Callosome v0.304 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Marked gene: HID1 as ready
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Callosome v0.303 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Pituitary hormone deficiency v0.12 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Marked gene: HID1 as ready
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3956 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3956 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Mendeliome v0.8290 HID1 Zornitza Stark Marked gene: HID1 as ready
Mendeliome v0.8290 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3955 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Mendeliome v0.8290 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Mendeliome v0.8290 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Mendeliome v0.8289 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Marked gene: HID1 as ready
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1136 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Mendeliome v0.8288 KIF1B Zornitza Stark Marked gene: KIF1B as ready
Mendeliome v0.8288 KIF1B Zornitza Stark Gene: kif1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8288 KIF1B Zornitza Stark Phenotypes for gene: KIF1B were changed from to Charcot-Marie-Tooth disease, type 2A1 MIM#118210; Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay
Mendeliome v0.8287 KIF1B Zornitza Stark Publications for gene: KIF1B were set to
Mendeliome v0.8286 KIF1B Zornitza Stark Mode of inheritance for gene: KIF1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8285 KIF1B Zornitza Stark reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Marked gene: KIF1B as ready
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Classified gene: KIF1B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Marked gene: ERGIC3 as ready
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Classified gene: ERGIC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.33 NUF2 Zornitza Stark Marked gene: NUF2 as ready
Microcephaly v1.33 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3952 ERGIC3 Seb Lunke gene: ERGIC3 was added
gene: ERGIC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ERGIC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC3 were set to ERGIC3
Phenotypes for gene: ERGIC3 were set to 33710394; 31585110
Review for gene: ERGIC3 was set to AMBER
Added comment: PMID: 33710394 - two homozygous sibs with mild ID, a novel canonical splice (c.717+1G>A). Absent in gnomAD, no splice studies. Classed as a VUS.

PMID: 31585110 - 1 hom (p.Gln233Argfs*10) in a male 8yo with Growth retardation, Microcephaly, Learning disability, Facial dysmorphism, Abnormal pigmentation.
Sources: Literature
Microcephaly v1.33 NUF2 Zornitza Stark gene: NUF2 was added
gene: NUF2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUF2 were set to 33721060
Phenotypes for gene: NUF2 were set to microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect
Review for gene: NUF2 was set to RED
Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Literature
Mendeliome v0.8285 NUF2 Zornitza Stark Marked gene: NUF2 as ready
Mendeliome v0.8285 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Mendeliome v0.8285 NUF2 Zornitza Stark Classified gene: NUF2 as Red List (low evidence)
Mendeliome v0.8285 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Mendeliome v0.8284 ERGIC3 Seb Lunke Marked gene: ERGIC3 as ready
Mendeliome v0.8284 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8284 ERGIC3 Seb Lunke Classified gene: ERGIC3 as Amber List (moderate evidence)
Mendeliome v0.8284 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Cataract v0.282 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Cataract v0.282 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Cataract v0.282 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from to Cataract 18, MIM#610019
Mendeliome v0.8283 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Mendeliome v0.8283 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Mendeliome v0.8283 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from to Cataract 18, MIM#610019
Mendeliome v0.8282 FYCO1 Zornitza Stark Publications for gene: FYCO1 were set to
Mendeliome v0.8281 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3951 JPH3 Seb Lunke Marked gene: JPH3 as ready
Intellectual disability syndromic and non-syndromic v0.3951 JPH3 Seb Lunke Gene: jph3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3951 JPH3 Seb Lunke gene: JPH3 was added
gene: JPH3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: JPH3 was set to Unknown
Publications for gene: JPH3 were set to 33824468
Phenotypes for gene: JPH3 were set to Intellectual disability; dystonia
Review for gene: JPH3 was set to RED
Added comment: One homozygous truncating variant (NM_020655.4: c.1740dup; p.(Val581Argfs*137)) found in a female individual affected with genetically undetermined neurodevelopmental anomalies (including delayed motor milestones, abnormal social communication, language difficulties and borderline cognitive impairment) and paroxysmal attacks of dystonia since her early infancy. No functional work were performed.

Only STRs disease causing, see separate STR list. No evidence for SNVs etc.
Sources: Literature
Mendeliome v0.8280 FYCO1 Zornitza Stark reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32355443; Phenotypes: Cataract 18, MIM#610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.281 FYCO1 Zornitza Stark Publications for gene: FYCO1 were set to
Cataract v0.280 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.280 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8280 JPH3 Seb Lunke Publications for gene: JPH3 were set to
Mendeliome v0.8279 MYT1 Zornitza Stark Publications for gene: MYT1 were set to 28612832; 32871052; 27358179
Mendeliome v0.8278 JPH3 Seb Lunke Marked gene: JPH3 as ready
Mendeliome v0.8278 JPH3 Seb Lunke Gene: jph3 has been classified as Red List (Low Evidence).
Mendeliome v0.8278 JPH3 Seb Lunke Phenotypes for gene: JPH3 were changed from to Intellectual disability; dystonia
Mendeliome v0.8277 MYT1 Zornitza Stark changed review comment from: Five unrelated individuals reported with variants in this gene and OAV spectrum.; to: Five unrelated individuals reported with variants in this gene and OAV spectrum.

Single individual reported with missense variant as part of an ID cohort, limited evidence for disease association.
Mendeliome v0.8277 JPH3 Seb Lunke Classified gene: JPH3 as Red List (low evidence)
Mendeliome v0.8277 JPH3 Seb Lunke Added comment: Comment on list classification: Only STRs disease causing, see separate STR list. No evidence for SNVs etc.
Mendeliome v0.8277 JPH3 Seb Lunke Gene: jph3 has been classified as Red List (Low Evidence).
Mendeliome v0.8276 MYT1 Zornitza Stark edited their review of gene: MYT1: Changed publications: 28612832, 32871052, 27358179, 33710394
Mendeliome v0.8276 MYT1 Zornitza Stark Marked gene: MYT1 as ready
Mendeliome v0.8276 MYT1 Zornitza Stark Gene: myt1 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.40 MYT1 Zornitza Stark Marked gene: MYT1 as ready
Mandibulofacial Acrofacial dysostosis v0.40 MYT1 Zornitza Stark Gene: myt1 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.40 MYT1 Zornitza Stark Phenotypes for gene: MYT1 were changed from to Craniofacial microsomia; OAV spectrum
Mandibulofacial Acrofacial dysostosis v0.39 MYT1 Zornitza Stark Publications for gene: MYT1 were set to
Mandibulofacial Acrofacial dysostosis v0.38 MYT1 Zornitza Stark Mode of inheritance for gene: MYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.37 MYT1 Zornitza Stark reviewed gene: MYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612832, 32871052, 27358179; Phenotypes: Craniofacial microsomia, OAV spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8276 MYT1 Zornitza Stark Phenotypes for gene: MYT1 were changed from to Craniofacial microsomia; OAV spectrum
Mendeliome v0.8275 MYT1 Zornitza Stark Publications for gene: MYT1 were set to
Mendeliome v0.8274 MYT1 Zornitza Stark Mode of inheritance for gene: MYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8273 MYT1 Zornitza Stark reviewed gene: MYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612832, 32871052, 27358179; Phenotypes: Craniofacial microsomia, OAV spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Marked gene: MYT1 as ready
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Gene: myt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Classified gene: MYT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Gene: myt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3948 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria
Intellectual disability syndromic and non-syndromic v0.3947 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria
Intellectual disability syndromic and non-syndromic v0.3947 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Genetic Epilepsy v0.1134 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3947 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria
Cerebellar and Pontocerebellar Hypoplasia v1.12 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3946 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Intellectual disability syndromic and non-syndromic v0.3945 ATP1A2 Zornitza Stark changed review comment from: Although some of the symptoms of this condition are episodic, intellectual disability is a recognised feature.; to: Alternating hemiplegia: Although some of the symptoms of this condition are episodic, intellectual disability is a recognised feature.
Intellectual disability syndromic and non-syndromic v0.3945 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Added comment: PMID 33880529: six individuals with de novo missense variants reported and DD/EE/PMG.; Changed publications: 33880529; Changed phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.8273 HEATR5B Seb Lunke Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia to pontocerebellar hypoplasia; intellectual disability; seizures
Mendeliome v0.8272 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM#104290; Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.8271 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Mendeliome v0.8270 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8269 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Added comment: Association with alternating hemiplegia is well established.

PMID 31608932: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal.

PMID 33880529: six individuals with de novo missense variants reported and DD/EE/PMG.; Changed rating: GREEN; Changed publications: 31608932, 33880529; Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8269 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Mendeliome v0.8269 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.164 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria
Polymicrogyria and Schizencephaly v0.163 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.162 ATP1A2 Zornitza Stark changed review comment from: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.; to: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.

33880529: six individuals with de novo missense variants reported and DD/EE/PMG.
Polymicrogyria and Schizencephaly v0.162 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529; Changed phenotypes: Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1133 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Genetic Epilepsy v0.1133 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1133 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria
Genetic Epilepsy v0.1132 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Genetic Epilepsy v0.1131 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8269 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Mendeliome v0.8269 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3945 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM#614820 to Alternating hemiplegia of childhood 2, MIM#614820; Developmental and epileptic encephalopathy, polymicrogyria
Intellectual disability syndromic and non-syndromic v0.3944 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Intellectual disability syndromic and non-syndromic v0.3943 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Added comment: PMID 33880529: 16 individuals reported with DD/EE and PMG.; Changed rating: GREEN; Changed publications: 33880529; Changed phenotypes: Alternating hemiplegia of childhood 2, MIM#614820, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.8268 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235, Polymicrogyria, Developmental and epileptic encephalopathy
Mendeliome v0.8268 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed publications: 15260953, 22842232, 24468074, 33762331, 33880529
Genetic Epilepsy v0.1130 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Genetic Epilepsy v0.1130 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.162 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to PMID: 33762331
Intellectual disability syndromic and non-syndromic v0.3943 ZC3H14 Seb Lunke reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1130 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria
Polymicrogyria and Schizencephaly v0.161 ATP1A3 Zornitza Stark changed review comment from: Eight individuals with de novo variants reported.; to: Eight individuals with de novo variants reported.

PMID 33880529: further 16 individuals reported.
Genetic Epilepsy v0.1129 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Polymicrogyria and Schizencephaly v0.161 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed publications: 33762331, 33880529; Changed phenotypes: Polymicrogyria, epilepsy, developmental delay, epileptic encephalopathy
Genetic Epilepsy v0.1128 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3943 ZC3H14 Seb Lunke Publications for gene: ZC3H14 were set to PubMed: 21734151
Genetic Epilepsy v0.1127 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8268 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from Ataxia-pancytopenia syndrome, MIM# 159550 to Ataxia-pancytopenia syndrome, MIM# 159550; Intellectual disability
Mendeliome v0.8267 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Mendeliome v0.8266 SAMD9L Zornitza Stark changed review comment from: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.; to: Ataxia-pancytopaenia: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.

ID: single individual reported, limited evidence of association.
Intellectual disability syndromic and non-syndromic v0.3942 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Mendeliome v0.8266 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed publications: 27259050, 30923096, 30322869, 33710394
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Gene: samd9l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Classified gene: SAMD9L as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Gene: samd9l has been classified as Red List (Low Evidence).
Microcephaly v1.32 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Kidneyome_SuperPanel v4.69 Bryony Thompson Changed child panels to: Renal Tubulointerstitial Disease; Renal Hypertension and Disorders of Aldosterone Metabolism; Haematuria_Alport; Branchio-oto-renal Syndrome; Renal Ciliopathies and Nephronophthisis; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic; Renal Tubulopathies; Nephrolithiasis and Nephrocalcinosis; Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN; Renal abnormalities of calcium and phosphate metabolism; Renal Abnormalities of Magnesium Metabolism; Renal Amyloidosis; Bartter Syndrome; Metabolic renal disease; Dent disease; Renal Tubular Dysgenesis; Hyperoxaluria
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Hyperthyroidism v0.19 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa v0.96 DYNC2H1 Ee Ming Wong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to PMID: 32753734
Phenotypes for gene: DYNC2H1 were set to non-syndromic retinitis pigmentosa
Review for gene: DYNC2H1 was set to GREEN
gene: DYNC2H1 was marked as current diagnostic
Added comment: - Five affected probands with homozygous and compound heterozygous missense and PTC variants
- Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies)
Sources: Literature
Ataxia v0.285 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Ataxia v0.284 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis
Intellectual disability syndromic and non-syndromic v0.3940 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Intellectual disability syndromic and non-syndromic v0.3939 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis
Mitochondrial disease v0.637 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Mitochondrial disease v0.636 PITRM1 Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8266 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Mendeliome v0.8265 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405
Dystonia and Chorea v0.183 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Dystonia and Chorea v0.182 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Ataxia v0.284 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability; ataxia; cerebellar atrophy to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Ataxia v0.283 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Intellectual disability syndromic and non-syndromic v0.3939 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Intellectual disability syndromic and non-syndromic v0.3938 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Regression v0.356 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Regression v0.355 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Mendeliome v0.8265 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Mendeliome v0.8264 IRX6 Eleanor Williams gene: IRX6 was added
gene: IRX6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRX6 were set to 33891002
Phenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455
Mode of pathogenicity for gene: IRX6 was set to Other
Review for gene: IRX6 was set to GREEN
Added comment: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.
Sources: Literature
Mendeliome v0.8264 IRX5 Eleanor Williams reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33891002; Phenotypes: cone dystrophy, MONDO:0000455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.3938 GNB2 Arina Puzriakova reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.8264 EPHA7 Zornitza Stark Tag SV/CNV tag was added to gene: EPHA7.
Mendeliome v0.8264 EPHA7 Zornitza Stark Marked gene: EPHA7 as ready
Mendeliome v0.8264 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8264 EPHA7 Zornitza Stark Classified gene: EPHA7 as Amber List (moderate evidence)
Mendeliome v0.8264 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8263 EPHA7 Zornitza Stark gene: EPHA7 was added
gene: EPHA7 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: EPHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHA7 were set to 34176129
Phenotypes for gene: EPHA7 were set to Intellectual disability
Review for gene: EPHA7 was set to AMBER
Added comment: Lévy et al (2021 - PMID: 34176129) provide evidence that haploinssuficiency of EPHA7 results in a neurodevelopmental disorder.

The authors report on 12 individuals belonging to 9 unrelated families, all harboring with 6q microdeletions spanning EPHA7.

Overlapping features included DD (13/13), ID (10/10 - mild in most cases, individuals with larger CNVs/additional variants had more severe phenotype), speech delay and behavioral disorders. Variable other features incl. hypotonia (70%), non specific facial features, eye abnormalities (40%) and cardiac defects (25%).

The CNVs ranged from 152 kb to few Mb in size but in 4 subjects (P5-8) were only minimal, involving only EPHA7.

9 out of 12 individuals had inherited the deletion (5 subjects paternal, 4 maternal), in 1 subject (P12) this occured de novo, while for 2 others inheritance was not specified. Most deletions were inherited from an unaffected parent (in 6/7 families), with unclear contribution in a further one.

The authors discuss on previous studies suggesting an important role for EphA7 in brain development (modulation of cell-cell adhesion and repulsion, regulation of dendrite morphogenesis in early corticogenesis, role in dendritic spine formation later in development. EphA7 has also been proposed to drive neuronal maturation and synaptic function).

Haploinsufficiency for other ephrins or ephrin receptors has been implicated in other NDDs.

Overall Lévy et al promote incomplete penetrance and variable expressivity with haploinsufficiency of this gene being a risk factor for NDD. [The gene has also an %HI of 2.76% and a pLI of 1].
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Marked gene: EPHA7 as ready
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Classified gene: EPHA7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3937 EPHA7 Zornitza Stark gene: EPHA7 was added
gene: EPHA7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
SV/CNV tags were added to gene: EPHA7.
Mode of inheritance for gene: EPHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHA7 were set to 34176129
Phenotypes for gene: EPHA7 were set to Intellectual disability
Review for gene: EPHA7 was set to AMBER
Added comment: Lévy et al (2021 - PMID: 34176129) provide evidence that haploinssuficiency of EPHA7 results in a neurodevelopmental disorder.

The authors report on 12 individuals belonging to 9 unrelated families, all harboring with 6q microdeletions spanning EPHA7.

Overlapping features included DD (13/13), ID (10/10 - mild in most cases, individuals with larger CNVs/additional variants had more severe phenotype), speech delay and behavioral disorders. Variable other features incl. hypotonia (70%), non specific facial features, eye abnormalities (40%) and cardiac defects (25%).

The CNVs ranged from 152 kb to few Mb in size but in 4 subjects (P5-8) were only minimal, involving only EPHA7.



9 out of 12 individuals had inherited the deletion (5 subjects paternal, 4 maternal), in 1 subject (P12) this occured de novo, while for 2 others inheritance was not specified. Most deletions were inherited from an unaffected parent (in 6/7 families), with unclear contribution in a further one.

The authors discuss on previous studies suggesting an important role for EphA7 in brain development (modulation of cell-cell adhesion and repulsion, regulation of dendrite morphogenesis in early corticogenesis, role in dendritic spine formation later in development. EphA7 has also been proposed to drive neuronal maturation and synaptic function).

Haploinsufficiency for other ephrins or ephrin receptors has been implicated in other NDDs.

Overall Lévy et al promote incomplete penetrance and variable expressivity with haploinsufficiency of this gene being a risk factor for NDD. [The gene has also an %HI of 2.76% and a pLI of 1].
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3936 DNM1 Zornitza Stark Marked gene: DNM1 as ready
Intellectual disability syndromic and non-syndromic v0.3936 DNM1 Zornitza Stark Gene: dnm1 has been classified as Green List (High Evidence).
Mendeliome v0.8262 DNM1 Zornitza Stark Marked gene: DNM1 as ready
Mendeliome v0.8262 DNM1 Zornitza Stark Gene: dnm1 has been classified as Green List (High Evidence).
Mendeliome v0.8262 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346
Mendeliome v0.8261 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Mendeliome v0.8260 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8259 DNM1 Zornitza Stark reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3936 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346
Intellectual disability syndromic and non-syndromic v0.3935 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Ciliopathies v1.4 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Ciliopathies v1.4 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3934 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1127 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346
Intellectual disability syndromic and non-syndromic v0.3933 DNM1 Zornitza Stark reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1126 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Genetic Epilepsy v0.1125 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Meckel syndrome 10, MIM# 614175
Renal Ciliopathies and Nephronophthisis v0.198 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Renal Ciliopathies and Nephronophthisis v0.197 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.196 B9D2 Zornitza Stark Classified gene: B9D2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.196 B9D2 Zornitza Stark Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.195 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21763481; Phenotypes: Meckel syndrome 10, MIM# 614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.4 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Ciliopathies v1.4 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.3 PDIA6 Zornitza Stark gene: PDIA6 was added
gene: PDIA6 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Expert Review
Ciliopathies v1.2 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Ciliopathies v1.2 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.2 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Ciliopathies v1.2 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Ciliopathies v1.1 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Genetic Epilepsy v0.1124 DNM1 Arina Puzriakova reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8259 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Mendeliome v0.8259 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8259 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Mendeliome v0.8259 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8258 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.106 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Skeletal Ciliopathies v0.105 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Skeletal Ciliopathies v0.105 WDR19 Zornitza Stark Gene: wdr19 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.105 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
Skeletal Ciliopathies v0.104 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Skeletal Ciliopathies v0.103 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.102 WDR19 Zornitza Stark Classified gene: WDR19 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.102 WDR19 Zornitza Stark Gene: wdr19 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.101 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: None; Publications: 22019273; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Ciliopathies v0.101 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Skeletal Ciliopathies v0.101 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.101 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Skeletal Ciliopathies v0.100 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Skeletal Ciliopathies v0.99 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.98 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.235 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Polydactyly v0.235 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Polydactyly v0.235 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Polydactyly v0.234 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Polydactyly v0.233 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8257 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Mendeliome v0.8257 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Mendeliome v0.8257 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Mendeliome v0.8256 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Mendeliome v0.8255 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8254 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.450 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Ciliopathies v0.450 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Ciliopathies v0.450 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Ciliopathies v0.449 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Ciliopathies v0.448 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.447 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.447 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Ciliopathies v0.447 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Ciliopathies v0.447 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Retinitis pigmentosa
Retinitis pigmentosa v0.96 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Retinitis pigmentosa v0.96 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.96 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR34 were set to 33124039
Phenotypes for gene: WDR34 were set to Retinitis pigmentosa
Review for gene: WDR34 was set to RED
Added comment: Single case report of association with RP. Gene-disease association well established for skeletal ciliopathy.
Sources: Literature
Skeletal Ciliopathies v0.98 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Skeletal Ciliopathies v0.98 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.98 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633
Skeletal Ciliopathies v0.97 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Skeletal Ciliopathies v0.96 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.95 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8254 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Mendeliome v0.8254 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Mendeliome v0.8254 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Retinitis pigmentosa
Mendeliome v0.8253 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Mendeliome v0.8252 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8251 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.446 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Ciliopathies v0.445 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.444 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8251 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Mendeliome v0.8251 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Mendeliome v0.8251 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Mendeliome v0.8250 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Mendeliome v0.8249 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8248 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33946315, 33875766, 33606107, 22019273, 23559409, 23683095, 32055034; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.444 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Ciliopathies v0.444 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Ciliopathies v0.444 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Ciliopathies v0.443 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Ciliopathies v0.442 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.441 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33946315, 33875766, 33606107, 22019273, 23559409, 23683095, 32055034; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.193 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.192 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Renal Ciliopathies and Nephronophthisis v0.192 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.191 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8248 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Mendeliome v0.8248 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Mendeliome v0.8248 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.190 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: 30851085, 27894351; Phenotypes: Meckel-Gruber syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8247 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Mendeliome v0.8246 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8245 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: 30851085, 27894351; Phenotypes: Meckel-Gruber syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.441 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Ciliopathies v0.441 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Ciliopathies v0.441 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Ciliopathies v0.440 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Ciliopathies v0.439 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3933 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Intellectual disability syndromic and non-syndromic v0.3933 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3933 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Intellectual disability syndromic and non-syndromic v0.3932 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Intellectual disability syndromic and non-syndromic v0.3931 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3930 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM# 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.233 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Polydactyly v0.233 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Polydactyly v0.233 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Polydactyly v0.232 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Mendeliome v0.8245 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Mendeliome v0.8245 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Mendeliome v0.8245 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Mendeliome v0.8244 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Mendeliome v0.8243 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8242 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM# 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.438 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Ciliopathies v0.438 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Ciliopathies v0.438 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Ciliopathies v0.437 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Ciliopathies v0.436 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Bardet-Biedl syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Additional findings_Paediatric v0.249 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Additional findings_Paediatric v0.248 TTC21B Zornitza Stark Classified gene: TTC21B as Green List (high evidence)
Additional findings_Paediatric v0.248 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.247 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.355 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Regression v0.355 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Regression v0.355 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Regression v0.354 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.353 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Regression v0.353 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Regression v0.352 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8242 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Mendeliome v0.8242 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Mendeliome v0.8242 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Mendeliome v0.8241 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Mendeliome v0.8240 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8239 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.435 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Ciliopathies v0.435 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Ciliopathies v0.435 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Ciliopathies v0.434 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Ciliopathies v0.433 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.432 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.175 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9 MIM#616629 to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Syndromic Retinopathy v0.174 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to 26487268
Syndromic Retinopathy v0.173 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Renal Ciliopathies and Nephronophthisis v0.189 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Renal Ciliopathies and Nephronophthisis v0.188 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.187 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.231 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Polydactyly v0.231 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Polydactyly v0.231 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Polydactyly v0.230 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Polydactyly v0.229 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8239 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Mendeliome v0.8239 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Mendeliome v0.8239 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Mendeliome v0.8238 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Mendeliome v0.8237 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8236 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Ciliopathies v0.431 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Ciliopathies v0.430 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.429 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.31 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Microcephaly v1.31 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Microcephaly v1.31 ATP9A Zornitza Stark Classified gene: ATP9A as Amber List (moderate evidence)
Microcephaly v1.31 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Microcephaly v1.30 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms
Review for gene: ATP9A was set to AMBER
Added comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3930 FTCD Elena Savva reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Classified gene: ATP9A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3929 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms
Review for gene: ATP9A was set to AMBER
Added comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Mendeliome v0.8236 ATP9A Zornitza Stark Classified gene: ATP9A as Amber List (moderate evidence)
Mendeliome v0.8236 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3928 ATP2C2 Zornitza Stark Marked gene: ATP2C2 as ready
Intellectual disability syndromic and non-syndromic v0.3928 ATP2C2 Zornitza Stark Gene: atp2c2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3928 ATP2C2 Zornitza Stark gene: ATP2C2 was added
gene: ATP2C2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2C2 were set to 33864365; 28440294
Phenotypes for gene: ATP2C2 were set to language impairment, HP:0002463
Review for gene: ATP2C2 was set to RED
Added comment: PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment. PMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W).
Sources: Literature
Mendeliome v0.8235 ATP2C2 Zornitza Stark Classified gene: ATP2C2 as Red List (low evidence)
Mendeliome v0.8235 ATP2C2 Zornitza Stark Gene: atp2c2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.157 OBSCN Zornitza Stark Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Hypertrophic cardiomyopathy v0.156 OBSCN Zornitza Stark reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8234 OBSCN Zornitza Stark Tag refuted was removed from gene: OBSCN.
Tag disputed tag was added to gene: OBSCN.
Mendeliome v0.8234 OBSCN Zornitza Stark Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Mendeliome v0.8233 OBSCN Zornitza Stark Tag refuted tag was added to gene: OBSCN.
Deafness_IsolatedAndComplex v1.80 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385
Deafness_IsolatedAndComplex v1.79 P2RX2 Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8233 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385
Mendeliome v0.8232 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33729479; 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578
Mendeliome v0.8231 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33729479; 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 2947957; 8
Mendeliome v0.8230 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578
Mendeliome v0.8229 ATP9A Arina Puzriakova gene: ATP9A was added
gene: ATP9A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms
Review for gene: ATP9A was set to AMBER
Added comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Mendeliome v0.8229 ATP2C2 Eleanor Williams gene: ATP2C2 was added
gene: ATP2C2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2C2 were set to 33864365; 28440294
Phenotypes for gene: ATP2C2 were set to language impairment, HP:0002463
Review for gene: ATP2C2 was set to RED
Added comment: PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment.

PMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W).
Sources: Literature
Mendeliome v0.8229 OBSCN Eleanor Williams reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.8229 P2RX2 Eleanor Williams reviewed gene: P2RX2: Rating: ; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.8229 AP2S1 Eleanor Williams reviewed gene: AP2S1: Rating: ; Mode of pathogenicity: None; Publications: 33729479; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360 to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360
Intellectual disability syndromic and non-syndromic v0.3926 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Intellectual disability syndromic and non-syndromic v0.3925 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3924 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 16415887, 17377820, 17160906, 19508969; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.352 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Regression v0.352 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Regression v0.352 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Regression v0.351 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.350 TMEM67 Zornitza Stark Classified gene: TMEM67 as Red List (low evidence)
Regression v0.350 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Regression v0.349 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8229 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Mendeliome v0.8229 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Mendeliome v0.8229 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Mendeliome v0.8228 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Mendeliome v0.8227 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8226 TMEM67 Zornitza Stark Deleted their comment
Mendeliome v0.8226 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.; Changed publications: 16415887, 17377820, 17160906, 19508969; Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360
Ciliopathies v0.429 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ciliopathies v0.429 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ciliopathies v0.429 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Ciliopathies v0.428 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Ciliopathies v0.427 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.426 TMEM67 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.
Ciliopathies v0.426 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360
Mendeliome v0.8226 XDH Zornitza Stark Marked gene: XDH as ready
Mendeliome v0.8226 XDH Zornitza Stark Gene: xdh has been classified as Green List (High Evidence).
Mendeliome v0.8226 XDH Zornitza Stark Phenotypes for gene: XDH were changed from to Xanthinuria, type I (MIM#278300)
Mendeliome v0.8225 XDH Zornitza Stark Publications for gene: XDH were set to
Mendeliome v0.8224 XDH Zornitza Stark Mode of inheritance for gene: XDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.21 CBL Zornitza Stark Marked gene: CBL as ready
Cerebral vascular malformations v0.21 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.21 CBL Zornitza Stark Publications for gene: CBL were set to 25283271; 28343148
Cerebral vascular malformations v0.20 CBL Zornitza Stark Classified gene: CBL as Green List (high evidence)
Cerebral vascular malformations v0.20 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Mendeliome v0.8223 XDH Ain Roesley reviewed gene: XDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32071838; Phenotypes: Xanthinuria, type I (MIM#278300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebral vascular malformations v0.19 CBL Natasha Brown reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343148, 25283271, 28589114; Phenotypes: moyamoya, cerebral arteriopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.229 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Polydactyly v0.229 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Polydactyly v0.229 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Polydactyly v0.228 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Polydactyly v0.227 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.95 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Skeletal Ciliopathies v0.95 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.95 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Skeletal Ciliopathies v0.94 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Skeletal Ciliopathies v0.93 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.92 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8223 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Mendeliome v0.8223 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Mendeliome v0.8223 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Mendeliome v0.8222 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Mendeliome v0.8221 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8220 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Ciliopathies v0.425 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Ciliopathies v0.424 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.423 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.99 LOR Bryony Thompson Tag new gene name tag was added to gene: LOR.
Palmoplantar Keratoderma and Erythrokeratoderma v0.99 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.8220 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Mendeliome v0.8220 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Mendeliome v0.8220 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Mendeliome v0.8219 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Mendeliome v0.8218 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8217 TCTN3 Zornitza Stark changed review comment from: Rare cause of JBS, I can only find two families reported plus one with OFD. Ataxia specifically described in one of the JBS individuals.; to: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).
Mendeliome v0.8217 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Ciliopathies v0.423 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Ciliopathies v0.423 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Ciliopathies v0.423 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Ciliopathies v0.422 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Ciliopathies v0.421 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.420 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326
Syndromic Retinopathy v0.172 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Syndromic Retinopathy v0.171 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3924 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Intellectual disability syndromic and non-syndromic v0.3924 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3924 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Intellectual disability syndromic and non-syndromic v0.3923 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Intellectual disability syndromic and non-syndromic v0.3922 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3921 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.186 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Renal Ciliopathies and Nephronophthisis v0.185 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.184 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.227 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Polydactyly v0.227 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Red List (Low Evidence).
Polydactyly v0.227 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993
Polydactyly v0.226 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Polydactyly v0.225 SDCCAG8 Zornitza Stark Classified gene: SDCCAG8 as Red List (low evidence)
Polydactyly v0.225 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Red List (Low Evidence).
Polydactyly v0.224 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed rating: RED
Mendeliome v0.8217 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Mendeliome v0.8217 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Mendeliome v0.8217 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Mendeliome v0.8216 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Mendeliome v0.8215 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8214 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.9 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, MIM# 615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444
Bardet Biedl syndrome v1.8 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Ciliopathies v0.419 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Ciliopathies v0.418 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.417 SDCCAG8 Zornitza Stark changed review comment from: Well established gene-disease association. Polydactyly is typically ABSENT.; to: Well established gene-disease association with BBS. Polydactyly is typically ABSENT. Also reported with LCA and apparently isolated nephronophtisis.
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065; Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444
Mendeliome v0.8214 SBDS Zornitza Stark Marked gene: SBDS as ready
Mendeliome v0.8214 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Mendeliome v0.8214 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Mendeliome v0.8213 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8212 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.417 SBDS Zornitza Stark Marked gene: SBDS as ready
Ciliopathies v0.417 SBDS Zornitza Stark Gene: sbds has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.417 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Ciliopathies v0.416 SBDS Zornitza Stark Publications for gene: SBDS were set to
Ciliopathies v0.415 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.414 SBDS Zornitza Stark Classified gene: SBDS as Amber List (moderate evidence)
Ciliopathies v0.414 SBDS Zornitza Stark Gene: sbds has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.413 SBDS Zornitza Stark reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 22554078; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Deleted their comment
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Mendeliome v0.8211 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Mendeliome v0.8210 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8209 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Mouse model.; Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Ciliopathies v0.412 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Ciliopathies v0.411 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.410 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis
Ciliopathies v0.410 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Ciliopathies v0.410 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Ciliopathies v0.410 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Ciliopathies v0.409 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.408 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.408 Zornitza Stark removed gene:PKD2 from the panel
Ciliopathies v0.408 Zornitza Stark removed gene:PKD1 from the panel
Ciliopathies v0.407 PKD1 Zornitza Stark reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8209 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Mendeliome v0.8209 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Mendeliome v0.8209 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Mendeliome v0.8208 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Mendeliome v0.8207 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8206 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.407 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Ciliopathies v0.407 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Ciliopathies v0.407 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Ciliopathies v0.406 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Ciliopathies v0.405 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.404 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8206 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Mendeliome v0.8206 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Mendeliome v0.8206 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Mendeliome v0.8205 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Mendeliome v0.8204 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8203 NPHP1 Zornitza Stark Tag SV/CNV tag was added to gene: NPHP1.
Mendeliome v0.8203 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285, 8852662, 9856524; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.404 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Ciliopathies v0.404 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Ciliopathies v0.404 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Ciliopathies v0.403 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Ciliopathies v0.402 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.401 NPHP1 Zornitza Stark changed review comment from: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS.; to: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS. Deletions common.
Ciliopathies v0.401 NPHP1 Zornitza Stark edited their review of gene: NPHP1: Changed publications: 15138899, 32139166, 28347285, 8852662, 9856524; Changed phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900
Mendeliome v0.8203 TIE1 Zornitza Stark Marked gene: TIE1 as ready
Mendeliome v0.8203 TIE1 Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8203 TIE1 Zornitza Stark Classified gene: TIE1 as Amber List (moderate evidence)
Mendeliome v0.8203 TIE1 Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8202 TIE1 Zornitza Stark gene: TIE1 was added
gene: TIE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIE1 were set to 32947856; 24764452
Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401
Review for gene: TIE1 was set to AMBER
Added comment: Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad.
Sources: Literature
Mendeliome v0.8201 KIF1B Paul De Fazio reviewed gene: KIF1B: Rating: RED; Mode of pathogenicity: None; Publications: 33710394; Phenotypes: Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3921 KIF1B Paul De Fazio gene: KIF1B was added
gene: KIF1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1B were set to 33710394
Phenotypes for gene: KIF1B were set to Hypotonia; coloboma; hypoplasia of the corpus callosum; severe neurodevelopmental delay
Review for gene: KIF1B was set to RED
gene: KIF1B was marked as current diagnostic
Added comment: Compound heterozygous missense variants reported in a woman with severe hypotonia, hypsarrhythmia, coloboma, hypoplasia of corpus callosum, severe neurodevelopmental delay.
Sources: Literature
Mendeliome v0.8201 NUF2 Dean Phelan gene: NUF2 was added
gene: NUF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUF2 were set to PMID: 33721060
Phenotypes for gene: NUF2 were set to microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect
Review for gene: NUF2 was set to RED
Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Literature
Mendeliome v0.8201 ERGIC3 Elena Savva gene: ERGIC3 was added
gene: ERGIC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ERGIC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC3 were set to PMID: 33710394; 31585110
Phenotypes for gene: ERGIC3 were set to Intellectual disability
Review for gene: ERGIC3 was set to AMBER
Added comment: PMID: 33710394 - two homozygous sibs with mild ID, a novel canonical splice (c.717+1G>A). Absent in gnomAD, no splice studies. Classed as a VUS.

PMID: 31585110 - 1 hom (p.Gln233Argfs*10) in a male 8yo with Growth retardation, Microcephaly, Learning disability, Facial dysmorphism, Abnormal pigmentation.
Sources: Literature
Cataract v0.279 FYCO1 Teresa Zhao reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32355443; Phenotypes: Cataract 18 (MIN#610019) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8201 JPH3 Teresa Zhao reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33824468; Phenotypes: Huntington disease-like 2 (MIM#606438) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3921 MYT1 Paul De Fazio changed review comment from: Missense variant reported de novo in a patient with mild ID. Patient also had a COL9A2 variant and skeletal features.
Sources: Literature; to: Missense variant reported de novo in a patient with mild ID reported in a cohort study, Patient also had a COL9A2 variant and skeletal features. Authors referred to it as an extended phenotype and dual diagnosis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3921 MYT1 Paul De Fazio gene: MYT1 was added
gene: MYT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 33710394
Phenotypes for gene: MYT1 were set to Intellectual disability
Review for gene: MYT1 was set to RED
gene: MYT1 was marked as current diagnostic
Added comment: Missense variant reported de novo in a patient with mild ID. Patient also had a COL9A2 variant and skeletal features.
Sources: Literature
Genetic Epilepsy v0.1124 ATP1A2 Ee Ming Wong reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.1124 ATP1A2 Ee Ming Wong Deleted their review
Genetic Epilepsy v0.1124 ATP1A2 Ee Ming Wong reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1124 ATP1A3 Ee Ming Wong changed review comment from: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity
Genetic Epilepsy v0.1124 ATP1A3 Ee Ming Wong changed review comment from: - six individuals with de novo missense variants
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity
Mendeliome v0.8201 HEATR5B Teresa Zhao gene: HEATR5B was added
gene: HEATR5B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to PMID: 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay.

Two homozygous splice variants were reported ((c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated
with reduced levels of HEATR5B protein.

Homozygous knockout mice were not viable.

*NOTE: gene (and alias) not found in OMIM
Sources: Literature
Genetic Epilepsy v0.1124 ATP1A3 Ee Ming Wong reviewed gene: ATP1A3: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3921 ZC3H14 Elena Savva reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21734151, 33710394; Phenotypes: Mental retardation, autosomal recessive 56 MIM#617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3921 SAMD9L Paul De Fazio edited their review of gene: SAMD9L: Changed publications: 33710394
Intellectual disability syndromic and non-syndromic v0.3921 SAMD9L Paul De Fazio gene: SAMD9L was added
gene: SAMD9L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SAMD9L were set to Intellectual disability
Review for gene: SAMD9L was set to RED
gene: SAMD9L was marked as current diagnostic
Added comment: Missense variant reported de novo in a patient with moderate ID, in a large cohort study. Author described it as a phenotype expansion as ataxia-pancytopenia not found in that patient.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Renal Ciliopathies and Nephronophthisis v0.183 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Renal Ciliopathies and Nephronophthisis v0.182 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.181 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Additional findings_Paediatric v0.246 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Additional findings_Paediatric v0.245 NEK8 Zornitza Stark Classified gene: NEK8 as Green List (high evidence)
Additional findings_Paediatric v0.245 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.244 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8201 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Mendeliome v0.8201 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Mendeliome v0.8201 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Mendeliome v0.8200 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Mendeliome v0.8199 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8198 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.401 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Ciliopathies v0.401 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Ciliopathies v0.401 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Ciliopathies v0.400 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Ciliopathies v0.399 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.398 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8198 MKKS Zornitza Stark Marked gene: MKKS as ready
Mendeliome v0.8198 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Mendeliome v0.8198 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa
Mendeliome v0.8197 MKKS Zornitza Stark Publications for gene: MKKS were set to
Mendeliome v0.8196 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8195 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326, 10973251; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.398 MKKS Zornitza Stark Marked gene: MKKS as ready
Ciliopathies v0.398 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Ciliopathies v0.398 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa
Ciliopathies v0.397 MKKS Zornitza Stark Publications for gene: MKKS were set to
Ciliopathies v0.396 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.395 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis) to Leber congenital amaurosis; Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Syndromic Retinopathy v0.170 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Syndromic Retinopathy v0.169 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Renal Ciliopathies and Nephronophthisis v0.180 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Renal Ciliopathies and Nephronophthisis v0.179 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.178 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8195 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Mendeliome v0.8195 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Mendeliome v0.8195 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Mendeliome v0.8194 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Mendeliome v0.8193 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8192 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.395 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5, MIM# 609254 to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Ciliopathies v0.394 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Ciliopathies v0.394 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Ciliopathies v0.394 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254
Ciliopathies v0.393 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Ciliopathies v0.392 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.391 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.391 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Ciliopathies v0.391 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Ciliopathies v0.391 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Ciliopathies v0.390 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.389 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Ciliopathies v0.389 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Ciliopathies v0.92 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Skeletal Ciliopathies v0.92 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.92 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Skeletal Ciliopathies v0.91 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Skeletal Ciliopathies v0.90 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.89 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8192 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Mendeliome v0.8192 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Mendeliome v0.8192 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Mendeliome v0.8191 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Mendeliome v0.8190 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8189 IFT80 Zornitza Stark commented on gene: IFT80: 5 unrelated families reported.
Mendeliome v0.8189 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.389 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Ciliopathies v0.388 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Ciliopathies v0.388 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Ciliopathies v0.388 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263
Ciliopathies v0.387 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Ciliopathies v0.386 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.385 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8189 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Mendeliome v0.8189 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Mendeliome v0.8189 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Mendeliome v0.8188 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Mendeliome v0.8187 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8186 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986; Phenotypes: Bardet-Biedl syndrome 17 (MIM#615994); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.385 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Ciliopathies v0.385 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Ciliopathies v0.385 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Ciliopathies v0.384 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Ciliopathies v0.383 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.382 LBR Zornitza Stark Marked gene: LBR as ready
Ciliopathies v0.382 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Ciliopathies v0.382 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140
Ciliopathies v0.381 LBR Zornitza Stark Publications for gene: LBR were set to
Ciliopathies v0.380 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8186 TTC26 Zornitza Stark changed review comment from: Seven families and functional data including zebrafish model.
Sources: Literature; to: Nine families and functional data including zebrafish model.
Sources: Literature
Mendeliome v0.8186 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model.
Sources: Literature; to: Seven families and functional data including zebrafish model.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature; to: 7 families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Cholestasis v0.197 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.379 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model.
Sources: Literature; to: 9 families and functional data including zebrafish model.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Cholestasis v0.197 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Cholestasis v0.196 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Mendeliome v0.8186 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Mendeliome v0.8186 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Mendeliome v0.8186 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Mendeliome v0.8186 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Mendeliome v0.8185 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model.
Sources: Literature
Ciliopathies v0.379 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Ciliopathies v0.379 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.379 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Ciliopathies v0.379 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.378 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model.
Sources: Literature
Ciliopathies v0.377 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Ciliopathies v0.377 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Ciliopathies v0.377 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120
Ciliopathies v0.376 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Ciliopathies v0.375 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.374 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Ciliopathies v0.374 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Ciliopathies v0.374 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Orofaciodigital syndrome XV 617127; Joubert syndrome
Ciliopathies v0.373 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Ciliopathies v0.372 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.371 KIAA0753 Zornitza Stark Deleted their comment
Ciliopathies v0.371 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Ciliopathies v0.371 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Ciliopathies v0.371 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546
Ciliopathies v0.370 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Ciliopathies v0.369 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.369 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.368 KIAA0586 Zornitza Stark Tag new gene name tag was added to gene: KIAA0586.
Polydactyly v0.224 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Polydactyly v0.224 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Polydactyly v0.224 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Polydactyly v0.223 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Polydactyly v0.222 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.89 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Skeletal Ciliopathies v0.89 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.89 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Skeletal Ciliopathies v0.88 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Skeletal Ciliopathies v0.87 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.86 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.368 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Ciliopathies v0.368 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Ciliopathies v0.368 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Ciliopathies v0.367 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Ciliopathies v0.366 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.86 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Skeletal Ciliopathies v0.86 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.86 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099
Skeletal Ciliopathies v0.85 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Skeletal Ciliopathies v0.84 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.83 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 21378380, 29896747; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099, Retinitis pigmentosa 81, MIM# 617871
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Ciliopathies v0.365 IFT43 Zornitza Stark Deleted their comment
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Added comment: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; Changed publications: 28400947, 21378380, 29896747; Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099
Mendeliome v0.8184 IFT43 Zornitza Stark Publications for gene: IFT43 were set to 28400947; 28973684; 21378380
Mendeliome v0.8183 IFT43 Zornitza Stark changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Mendeliome v0.8183 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Ciliopathies v0.365 IFT43 Zornitza Stark changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Mendeliome v0.8183 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Mendeliome v0.8183 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Mendeliome v0.8183 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099
Mendeliome v0.8182 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Mendeliome v0.8181 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8180 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Ciliopathies v0.365 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Ciliopathies v0.365 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099
Ciliopathies v0.364 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Ciliopathies v0.363 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.362 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.95 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Retinitis pigmentosa v0.95 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.95 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Retinitis pigmentosa 80 to Retinitis pigmentosa 80, MIM# 617781
Retinitis pigmentosa v0.94 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Retinitis pigmentosa v0.93 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216056, 26968735; Phenotypes: Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.222 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Polydactyly v0.222 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Polydactyly v0.222 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Polydactyly v0.221 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Polydactyly v0.220 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8180 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Mendeliome v0.8180 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Mendeliome v0.8180 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781
Mendeliome v0.8179 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Mendeliome v0.8178 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8177 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.83 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Skeletal Ciliopathies v0.83 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.83 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Skeletal Ciliopathies v0.82 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Skeletal Ciliopathies v0.81 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.362 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Ciliopathies v0.362 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Ciliopathies v0.362 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v0.361 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Ciliopathies v0.360 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.359 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.80 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.78 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; short stature; deafness
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B (inherited variants segregated with phenotype). 4 individuals had deafness.
Sources: Expert Review
Hair disorders v0.46 SNRPE Zornitza Stark Classified gene: SNRPE as Green List (high evidence)
Hair disorders v0.46 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Hair disorders v0.45 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3921 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Intellectual disability syndromic and non-syndromic v0.3921 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3921 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Developmental and epileptic encephalopathy 8, MIM# 300607
Intellectual disability syndromic and non-syndromic v0.3920 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Intellectual disability syndromic and non-syndromic v0.3919 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 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 v0.3918 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718, 33600053, 32939676; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; 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 v0.1124 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 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)
Mendeliome v0.8177 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 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)
Mendeliome v0.8176 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Mendeliome v0.8175 SNORA31 Zornitza Stark edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Susceptibility to Viral Infections v0.76 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Susceptibility to Viral Infections v0.75 SNORA31 Zornitza Stark edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Skeletal Ciliopathies v0.80 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Skeletal Ciliopathies v0.80 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.80 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Skeletal Ciliopathies v0.79 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Skeletal Ciliopathies v0.78 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.77 IFT172 Zornitza Stark reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140113; Phenotypes: Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.359 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Ciliopathies v0.359 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Ciliopathies v0.359 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v0.358 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Ciliopathies v0.357 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.356 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO.
More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.
Ciliopathies v0.356 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113, 25168386; Changed phenotypes: Bardet-Biedl syndrome, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v0.356 EVC Zornitza Stark Marked gene: EVC as ready
Ciliopathies v0.356 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Ciliopathies v0.356 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
Ciliopathies v0.355 EVC Zornitza Stark Publications for gene: EVC were set to
Ciliopathies v0.354 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.220 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Polydactyly v0.220 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Polydactyly v0.220 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Polydactyly v0.219 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Polydactyly v0.218 DYNC2LI1 Zornitza Stark reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Ciliopathies v0.352 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Ciliopathies v0.351 DYNC2LI1 Zornitza Stark Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.218 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Polydactyly v0.218 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Polydactyly v0.218 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Polydactyly v0.217 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Polydactyly v0.216 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.77 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Skeletal Ciliopathies v0.77 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.77 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Skeletal Ciliopathies v0.76 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Skeletal Ciliopathies v0.75 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.74 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Mendeliome v0.8175 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Mendeliome v0.8175 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Mendeliome v0.8175 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Mendeliome v0.8174 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Mendeliome v0.8173 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8172 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Ciliopathies v0.349 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Ciliopathies v0.348 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.347 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127
Ciliopathies v0.347 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Renal Ciliopathies and Nephronophthisis v0.177 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Renal Ciliopathies and Nephronophthisis v0.176 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.175 DDX59 Zornitza Stark Classified gene: DDX59 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.175 DDX59 Zornitza Stark Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.174 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3918 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.216 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Polydactyly v0.216 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Polydactyly v0.216 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Polydactyly v0.215 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Polydactyly v0.214 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8172 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Mendeliome v0.8172 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Mendeliome v0.8172 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Mendeliome v0.8171 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Mendeliome v0.8170 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8169 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.347 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Ciliopathies v0.347 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Ciliopathies v0.347 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Ciliopathies v0.346 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Ciliopathies v0.345 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Classified gene: CEP83 as Green List (high evidence)
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.243 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706; 33938610
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Review for gene: CEP83 was set to GREEN
Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert Review
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Classified gene: CEP83 as Green List (high evidence)
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.92 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706; 33938610
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Review for gene: CEP83 was set to GREEN
Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3917 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Intellectual disability syndromic and non-syndromic v0.3917 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3917 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Intellectual disability syndromic and non-syndromic v0.3916 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Intellectual disability syndromic and non-syndromic v0.3915 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3914 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Renal Ciliopathies and Nephronophthisis v0.173 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Renal Ciliopathies and Nephronophthisis v0.172 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.171 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8169 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Mendeliome v0.8169 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Mendeliome v0.8169 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Mendeliome v0.8168 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Mendeliome v0.8167 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8166 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.93 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Hydrocephalus_Ventriculomegaly v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.93 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID
Hydrocephalus_Ventriculomegaly v0.92 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Hydrocephalus_Ventriculomegaly v0.91 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.90 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Hydrocephalus, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.344 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Ciliopathies v0.344 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Ciliopathies v0.344 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Ciliopathies v0.343 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Ciliopathies v0.342 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.341 CEP83 Zornitza Stark edited their review of gene: CEP83: Changed phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID
Ciliopathies v0.341 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.29 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Microcephaly v1.29 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Microcephaly v1.29 KMT2E Zornitza Stark Classified gene: KMT2E as Green List (high evidence)
Microcephaly v1.29 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Craniosynostosis v1.22 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Craniosynostosis v1.22 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Craniosynostosis v1.21 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Craniosynostosis v1.21 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Craniosynostosis v1.20 RNU12 Bryony Thompson Marked gene: RNU12 as ready
Craniosynostosis v1.20 RNU12 Bryony Thompson Gene: rnu12 has been classified as Red List (Low Evidence).
Craniosynostosis v1.20 RNU12 Bryony Thompson gene: RNU12 was added
gene: RNU12 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Craniosynostosis is a major feature of the condition.
Sources: Literature
Mendeliome v0.8166 RNU12 Bryony Thompson Marked gene: RNU12 as ready
Mendeliome v0.8166 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Mendeliome v0.8166 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Mendeliome v0.8166 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Mendeliome v0.8165 RNU12 Bryony Thompson gene: RNU12 was added
gene: RNU12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356; 27863452
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Also, limited evidence for an association with cerebellar ataxia with a single large consanguineous family reported with a homozygous variant.
Sources: Literature
Microcephaly v1.28 KMT2E Elena Savva gene: KMT2E was added
gene: KMT2E was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2E were set to PMID: 31079897; 33111303
Phenotypes for gene: KMT2E were set to O'Donnell-Luria-Rodan syndrome MIM#618512
Mode of pathogenicity for gene: KMT2E was set to Other
Review for gene: KMT2E was set to GREEN
Added comment: PMID: 31079897: microcephaly was reported in 2/3 patients with de novo missense variants

PMID: 33111303: also reports patients with missense variants and microcephaly

Potentially alternative mechanism due to the more severe presentation
Sources: Literature
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Marked gene: FHOD3 as ready
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Gene: fhod3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Cardiomyopathy_Paediatric v0.95 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to
Cardiomyopathy_Paediatric v0.94 FHOD3 Zornitza Stark Mode of inheritance for gene: FHOD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.93 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8164 FHOD3 Zornitza Stark Marked gene: FHOD3 as ready
Mendeliome v0.8164 FHOD3 Zornitza Stark Gene: fhod3 has been classified as Green List (High Evidence).
Mendeliome v0.8164 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Mendeliome v0.8163 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to
Mendeliome v0.8162 FHOD3 Zornitza Stark Mode of inheritance for gene: FHOD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8161 FHOD3 Zornitza Stark Tag SV/CNV tag was added to gene: FHOD3.
Mendeliome v0.8161 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.156 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Hypertrophic cardiomyopathy v0.155 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Leukodystrophy v0.223 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Leukodystrophy - paediatric. Sources: Expert Review
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert Review
Mendeliome v0.8161 PPP1R21 Zornitza Stark Phenotypes for gene: PPP1R21 were changed from Hypotonia; intellectual disability; white matter abnormalities to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities
Mendeliome v0.8160 PPP1R21 Zornitza Stark edited their review of gene: PPP1R21: Changed phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383, Hypotonia, intellectual disability, white matter abnormalities
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Marked gene: KCNJ16 as ready
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Classified gene: KCNJ16 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.76 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness
Review for gene: KCNJ16 was set to GREEN
Added comment: 8 unrelated families reported.
Sources: Literature
Mendeliome v0.8160 KCNJ16 Zornitza Stark Marked gene: KCNJ16 as ready
Mendeliome v0.8160 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Mendeliome v0.8160 KCNJ16 Zornitza Stark Classified gene: KCNJ16 as Green List (high evidence)
Mendeliome v0.8160 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Mendeliome v0.8159 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness
Review for gene: KCNJ16 was set to GREEN
Added comment: 8 unrelated families reported.
Sources: Literature
Mendeliome v0.8158 KLHL7 Zornitza Stark Marked gene: KLHL7 as ready
Mendeliome v0.8158 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Mendeliome v0.8158 KLHL7 Zornitza Stark Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome (MIM#617055); Retinitis pigmentosa 42 (MIM#612943)
Mendeliome v0.8157 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to
Mendeliome v0.8156 KLHL7 Zornitza Stark Mode of inheritance for gene: KLHL7 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Hypophosphataemia or rickets v0.25 SLC34A3 Zornitza Stark Publications for gene: SLC34A3 were set to
Hypophosphataemia or rickets v0.24 SLC34A3 Zornitza Stark Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.23 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphataemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8155 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Mendeliome v0.8155 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Mendeliome v0.8155 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from to Hypophosphatemic rickets with hypercalciuria, (MIM#241530)
Mendeliome v0.8154 SLC34A3 Zornitza Stark Publications for gene: SLC34A3 were set to
Mendeliome v0.8153 SLC34A3 Zornitza Stark Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8152 TNC Zornitza Stark Marked gene: TNC as ready
Mendeliome v0.8152 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8152 TNC Zornitza Stark Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629
Mendeliome v0.8151 TNC Zornitza Stark Publications for gene: TNC were set to
Mendeliome v0.8150 TNC Zornitza Stark Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8149 TNC Zornitza Stark Classified gene: TNC as Amber List (moderate evidence)
Mendeliome v0.8149 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8148 TNC Zornitza Stark reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043, 34093110, 33763067; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8148 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Mendeliome v0.8148 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Mendeliome v0.8148 RIPK4 Zornitza Stark Phenotypes for gene: RIPK4 were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Mendeliome v0.8147 RIPK4 Zornitza Stark Publications for gene: RIPK4 were set to
Mendeliome v0.8146 RIPK4 Zornitza Stark Mode of inheritance for gene: RIPK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8145 RIPK4 Zornitza Stark reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.133 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Clefting disorders v0.133 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Mendeliome v0.8145 KLHL7 Ain Roesley reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055), Retinitis pigmentosa 42 (MIM#612943); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.8145 SLC34A3 Ain Roesley reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphatemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.113 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Overgrowth v1.1 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Brain Calcification v1.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Clefting disorders v0.133 RIPK4 Chirag Patel Classified gene: RIPK4 as Green List (high evidence)
Clefting disorders v0.133 RIPK4 Chirag Patel Gene: ripk4 has been classified as Green List (High Evidence).
Clefting disorders v0.132 RIPK4 Chirag Patel Classified gene: RIPK4 as Green List (high evidence)
Clefting disorders v0.132 RIPK4 Chirag Patel Gene: ripk4 has been classified as Green List (High Evidence).
Clefting disorders v0.131 RIPK4 Chirag Patel gene: RIPK4 was added
gene: RIPK4 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to PMID: 28940926; 22197489; 22197488
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650
Review for gene: RIPK4 was set to GREEN
gene: RIPK4 was marked as current diagnostic
Added comment: Clefting well associated with this syndrome
Sources: Literature
Mendeliome v0.8145 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Mendeliome v0.8145 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Mendeliome v0.8145 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Mendeliome v0.8144 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Mendeliome v0.8143 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8142 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.341 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Ciliopathies v0.341 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Ciliopathies v0.341 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Ciliopathies v0.340 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Ciliopathies v0.339 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.338 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies.
Ciliopathies v0.338 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Changed phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189
Polydactyly v0.214 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Polydactyly v0.214 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Polydactyly v0.214 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Polydactyly v0.213 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Polydactyly v0.212 CEP164 Zornitza Stark Deleted their comment
Polydactyly v0.212 CEP164 Zornitza Stark edited their review of gene: CEP164: Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.; Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Renal Ciliopathies and Nephronophthisis v0.170 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Renal Ciliopathies and Nephronophthisis v0.169 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.168 CEP164 Zornitza Stark reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3913 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007
Phenotypes for gene: CEP164 were set to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Review for gene: CEP164 was set to GREEN
Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert Review
Mendeliome v0.8142 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Mendeliome v0.8142 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Mendeliome v0.8142 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Mendeliome v0.8141 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Mendeliome v0.8140 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.338 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Ciliopathies v0.338 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Mendeliome v0.8139 CEP164 Zornitza Stark reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.8 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from Nephronophthisis 15, MIM# 614845 to Bardet-Biedl syndrome
Bardet Biedl syndrome v1.7 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Bardet Biedl syndrome v1.6 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Bardet Biedl syndrome v1.6 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Ciliopathies v0.338 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Bardet Biedl syndrome v1.5 CEP164 Zornitza Stark changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert list
Bardet Biedl syndrome v1.5 CEP164 Zornitza Stark edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome
Ciliopathies v0.337 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Ciliopathies v0.336 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP164 Zornitza Stark changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert list
Ciliopathies v0.335 CEP164 Zornitza Stark edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome
Skeletal Ciliopathies v0.74 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Skeletal Ciliopathies v0.74 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.74 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Skeletal Ciliopathies v0.73 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Skeletal Ciliopathies v0.72 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Ciliopathies v0.335 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Polydactyly v0.212 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Polydactyly v0.212 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Polydactyly v0.212 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Skeletal Ciliopathies v0.71 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.211 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Polydactyly v0.210 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8139 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Mendeliome v0.8139 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Mendeliome v0.8139 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Mendeliome v0.8138 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Mendeliome v0.8137 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Mendeliome v0.8136 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.334 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Ciliopathies v0.333 CEP120 Zornitza Stark changed review comment from: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data.
Sources: Expert list; to: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data.
Sources: Expert list
Ciliopathies v0.333 CEP120 Zornitza Stark edited their review of gene: CEP120: Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.333 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3912 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Intellectual disability syndromic and non-syndromic v0.3911 CEP104 Zornitza Stark edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770
Joubert syndrome and other neurological ciliopathies v1.8 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Joubert syndrome and other neurological ciliopathies v1.7 CEP104 Zornitza Stark edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770
Mendeliome v0.8136 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Mendeliome v0.8136 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Mendeliome v0.8136 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Mendeliome v0.8135 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Mendeliome v0.8134 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8133 CEP104 Zornitza Stark reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 26477546; Phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.332 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Ciliopathies v0.331 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Ciliopathies v0.331 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Ciliopathies v0.331 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781
Ciliopathies v0.330 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Ciliopathies v0.329 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Intellectual disability syndromic and non-syndromic v0.3910 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Intellectual disability syndromic and non-syndromic v0.3909 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3908 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.349 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Regression v0.349 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Regression v0.349 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Regression v0.348 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.347 C5orf42 Zornitza Stark Classified gene: C5orf42 as Red List (low evidence)
Regression v0.347 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Regression v0.346 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.210 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Polydactyly v0.210 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Polydactyly v0.210 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Polydactyly v0.209 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Polydactyly v0.209 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Polydactyly v0.208 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8133 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Joubert syndrome and other neurological ciliopathies v1.7 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Joubert syndrome and other neurological ciliopathies v1.7 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, MIM# 614615 to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Joubert syndrome and other neurological ciliopathies v1.6 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to 22425360
Joubert syndrome and other neurological ciliopathies v1.5 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Joubert syndrome and other neurological ciliopathies v1.5 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8133 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Mendeliome v0.8133 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Mendeliome v0.8133 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8132 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Mendeliome v0.8131 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8130 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.

New gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 families reported with each association.

New gene name is CPLANE1.
Mendeliome v0.8130 C5orf42 Zornitza Stark Deleted their comment
Ciliopathies v0.328 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.

New gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Ciliopathies v0.328 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Added comment: Well established gene-disease association.

New gene name is CPLANE1.; Changed publications: 22425360
Ciliopathies v0.328 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

New gene name is CPLANE1.
Ciliopathies v0.328 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Ciliopathies v0.328 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Ciliopathies v0.328 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Ciliopathies v0.328 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615
Ciliopathies v0.327 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Ciliopathies v0.326 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark changed review comment from: 7 families also reported with isolated retinal dystrophy.; to: 7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

New HGNC approved name is CFAP410.
Mendeliome v0.8130 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Mendeliome v0.8130 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Ciliopathies v0.325 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Ciliopathies v0.325 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Ciliopathies v0.325 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Ciliopathies v0.325 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to 30679166
Cone-rod Dystrophy v0.23 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26294103, 23105016, 27548899; Phenotypes: Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271
Skeletal Ciliopathies v0.70 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Skeletal Ciliopathies v0.69 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.68 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8130 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Mendeliome v0.8130 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Mendeliome v0.8130 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547
Mendeliome v0.8129 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Mendeliome v0.8128 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8127 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.325 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547
Ciliopathies v0.324 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Ciliopathies v0.323 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.322 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Renal Ciliopathies and Nephronophthisis v0.167 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Renal Ciliopathies and Nephronophthisis v0.166 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.165 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3908 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Intellectual disability syndromic and non-syndromic v0.3907 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Intellectual disability syndromic and non-syndromic v0.3907 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3907 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Intellectual disability syndromic and non-syndromic v0.3906 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Intellectual disability syndromic and non-syndromic v0.3905 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3904 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.208 BBS9 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, polydactyly is a key feature.
Polydactyly v0.208 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Polydactyly v0.208 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Polydactyly v0.208 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Polydactyly v0.207 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Polydactyly v0.206 BBS9 Zornitza Stark edited their review of gene: BBS9: Changed phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437
Mendeliome v0.8127 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Mendeliome v0.8127 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Mendeliome v0.8127 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Mendeliome v0.8126 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Mendeliome v0.8125 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8124 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.5 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Ciliopathies v0.321 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Ciliopathies v0.321 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Ciliopathies v0.321 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Ciliopathies v0.320 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Ciliopathies v0.319 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Renal Ciliopathies and Nephronophthisis v0.164 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Renal Ciliopathies and Nephronophthisis v0.163 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.162 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3904 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Intellectual disability syndromic and non-syndromic v0.3904 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3904 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Intellectual disability syndromic and non-syndromic v0.3903 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Intellectual disability syndromic and non-syndromic v0.3902 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3901 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.206 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Polydactyly v0.206 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Polydactyly v0.206 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Polydactyly v0.205 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Mendeliome v0.8124 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Mendeliome v0.8124 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Mendeliome v0.8124 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Mendeliome v0.8123 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Mendeliome v0.8122 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8121 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.4 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Ciliopathies v0.318 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Ciliopathies v0.318 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Ciliopathies v0.318 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Ciliopathies v0.317 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Ciliopathies v0.316 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.315 BBS7 Zornitza Stark edited their review of gene: BBS7: Changed phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435
Polydactyly v0.204 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Polydactyly v0.204 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Polydactyly v0.204 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Polydactyly v0.203 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Polydactyly v0.202 BBS5 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, polydactyly is a feature.
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, renal abnormalities are a feature.
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Renal Ciliopathies and Nephronophthisis v0.161 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Renal Ciliopathies and Nephronophthisis v0.160 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.159 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3901 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Intellectual disability syndromic and non-syndromic v0.3901 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3901 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Intellectual disability syndromic and non-syndromic v0.3900 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Intellectual disability syndromic and non-syndromic v0.3899 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3898 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8121 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Mendeliome v0.8121 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Mendeliome v0.8121 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Mendeliome v0.8120 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Mendeliome v0.8119 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8118 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.3 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, MIM#615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Bardet Biedl syndrome v1.2 BBS5 Zornitza Stark edited their review of gene: BBS5: Changed phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434
Ciliopathies v0.315 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Ciliopathies v0.315 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Ciliopathies v0.315 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Ciliopathies v0.314 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Ciliopathies v0.313 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.312 BBS5 Zornitza Stark edited their review of gene: BBS5: Changed phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434
Intellectual disability syndromic and non-syndromic v0.3898 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Intellectual disability syndromic and non-syndromic v0.3898 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3898 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Intellectual disability syndromic and non-syndromic v0.3897 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Intellectual disability syndromic and non-syndromic v0.3896 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3895 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Renal Ciliopathies and Nephronophthisis v0.158 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Renal Ciliopathies and Nephronophthisis v0.157 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.156 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.202 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Polydactyly v0.202 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Polydactyly v0.202 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Polydactyly v0.201 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Mendeliome v0.8118 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Mendeliome v0.8118 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Mendeliome v0.8118 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Mendeliome v0.8117 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Mendeliome v0.8116 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8115 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.2 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, MIM#615982 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Ciliopathies v0.312 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Ciliopathies v0.312 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Ciliopathies v0.312 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Ciliopathies v0.311 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Ciliopathies v0.310 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.309 BBS4 Zornitza Stark edited their review of gene: BBS4: Changed phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433
Ciliopathies v0.309 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Ciliopathies v0.309 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Ciliopathies v0.309 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562
Ciliopathies v0.308 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Ciliopathies v0.307 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.306 BBS2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Limited number of families also reported with isolated RP.
Ciliopathies v0.306 BBS2 Zornitza Stark edited their review of gene: BBS2: Changed publications: 11567139, 16823392, 28143435, 31960602, 25541840; Changed phenotypes: Bardet-Biedl syndrome 2, MIM# 615981, Retinitis pigmentosa 74, MIM# 616562
Ciliopathies v0.306 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Ciliopathies v0.306 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Ciliopathies v0.306 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Ciliopathies v0.305 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Ciliopathies v0.304 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.303 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Ciliopathies v0.303 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Ciliopathies v0.303 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Ciliopathies v0.303 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Ciliopathies v0.303 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Ciliopathies v0.302 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Ciliopathies v0.301 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.300 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Ciliopathies v0.300 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Ciliopathies v0.300 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Ciliopathies v0.299 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Ciliopathies v0.298 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.297 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Ciliopathies v0.297 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Ciliopathies v0.297 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175
Ciliopathies v0.296 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Ciliopathies v0.295 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Renal Ciliopathies and Nephronophthisis v0.155 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Renal Ciliopathies and Nephronophthisis v0.154 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.153 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3895 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Intellectual disability syndromic and non-syndromic v0.3895 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3895 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Intellectual disability syndromic and non-syndromic v0.3894 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Intellectual disability syndromic and non-syndromic v0.3893 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3892 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data, ID is a key feature.
Intellectual disability syndromic and non-syndromic v0.3892 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.199 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Polydactyly v0.198 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Polydactyly v0.197 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8115 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Mendeliome v0.8115 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Mendeliome v0.8115 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Mendeliome v0.8114 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Mendeliome v0.8113 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.293 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575 to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Mendeliome v0.8112 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.293 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Ciliopathies v0.292 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Ciliopathies v0.291 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.290 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported with BBS and functional data. Some families reported with isolated RP.
Ciliopathies v0.290 ARL6 Zornitza Stark edited their review of gene: ARL6: Changed publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Changed phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575
Proteinuria v0.169 SPRY2 Bryony Thompson Marked gene: SPRY2 as ready
Proteinuria v0.169 SPRY2 Bryony Thompson Gene: spry2 has been classified as Red List (Low Evidence).
Proteinuria v0.169 SPRY2 Bryony Thompson changed review comment from: A single family reported with expression analyses conducted in some patient cells.
Sources: Literature; to: A single family reported with expression analyses conducted in some patient cells. No variants identified in 70 apparently sporadic cases with IgAN.
Sources: Literature
Proteinuria v0.169 SPRY2 Bryony Thompson gene: SPRY2 was added
gene: SPRY2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: SPRY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY2 were set to 25782674
Phenotypes for gene: SPRY2 were set to {?IgA nephropathy, susceptibility to, 3} MIM#616818
Review for gene: SPRY2 was set to RED
Added comment: A single family reported with expression analyses conducted in some patient cells.
Sources: Literature
Mendeliome v0.8112 IL37 Zornitza Stark Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Mendeliome v0.8111 IL37 Zornitza Stark edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Inflammatory bowel disease v0.58 IL37 Zornitza Stark Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Inflammatory bowel disease v0.57 IL37 Zornitza Stark edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
Additional findings_Paediatric v0.241 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Additional findings_Paediatric v0.240 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.239 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Skeletal dysplasia v0.105 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.104 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8111 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
Mendeliome v0.8110 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Mendeliome v0.8109 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8108 SLCO2A1 Zornitza Stark edited their review of gene: SLCO2A1: Changed publications: 23509104, 27134495, 33852188, 22331663, 27134495
Mendeliome v0.8108 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495]; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8108 NDUFB11 Zornitza Stark edited their review of gene: NDUFB11: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Mendeliome v0.8108 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721 to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721; X-linked sideroblastic anaemia
Mendeliome v0.8107 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to 28050600; 27488349; 30423443; 27488349
Mendeliome v0.8106 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.10 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Red cell disorders v0.10 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Red cell disorders v0.10 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to X-linked sideroblastic anaemia
Red cell disorders v0.9 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Red cell disorders v0.8 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.7 NDUFB11 Zornitza Stark Classified gene: NDUFB11 as Green List (high evidence)
Red cell disorders v0.7 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Red cell disorders v0.6 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3892 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Intellectual disability syndromic and non-syndromic v0.3892 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3892 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Intellectual disability syndromic and non-syndromic v0.3891 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Intellectual disability syndromic and non-syndromic v0.3890 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3889 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.302 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Callosome v0.302 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Callosome v0.302 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Callosome v0.301 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Callosome v0.300 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.299 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1123 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Microcephaly v1.28 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Microcephaly v1.28 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Microcephaly v1.28 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Microcephaly v1.27 PPP2R1A Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence)
Microcephaly v1.27 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence)
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.81 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Macrocephaly_Megalencephaly v0.81 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.81 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Macrocephaly_Megalencephaly v0.80 PPP2R1A Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence)
Macrocephaly_Megalencephaly v0.80 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Mendeliome v0.8106 PPP2R1A Zornitza Stark changed review comment from: Intellectual disability with variable other features, including CC abnormalities and microcephaly.; to: Intellectual disability with variable other features, including CC abnormalities and microcephaly/macrocephaly.
Macrocephaly_Megalencephaly v0.79 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8106 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Mendeliome v0.8106 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Mendeliome v0.8106 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Mendeliome v0.8105 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Mendeliome v0.8104 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8103 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8103 KIF1B Bryony Thompson Classified gene: KIF1B as Amber List (moderate evidence)
Mendeliome v0.8103 KIF1B Bryony Thompson Gene: kif1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Marked gene: ARHGEF10 as ready
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Classified gene: ARHGEF10 as Amber List (moderate evidence)
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Added comment: Comment on list classification: ClinGen gene-disease clinical validity classification is limited for this gene.
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.92 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Red cell disorders v0.6 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: Anaemia, XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1121 PPP2R1A Elena Savva gene: PPP2R1A was added
gene: PPP2R1A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268
Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362
Mode of pathogenicity for gene: PPP2R1A was set to Other
Review for gene: PPP2R1A was set to GREEN
Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

10/26 patients were reported with epilepsy, interestingly none also presented with macrocephaly (otherwise observed in 38% of the cohort)
Sources: Literature
Microcephaly v1.26 PPP2R1A Elena Savva gene: PPP2R1A was added
gene: PPP2R1A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268
Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362
Mode of pathogenicity for gene: PPP2R1A was set to Other
Review for gene: PPP2R1A was set to GREEN
gene: PPP2R1A was marked as current diagnostic
Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense.
Sources: Literature
Macrocephaly_Megalencephaly v0.79 PPP2R1A Elena Savva gene: PPP2R1A was added
gene: PPP2R1A was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268
Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362
Mode of pathogenicity for gene: PPP2R1A was set to Other
Review for gene: PPP2R1A was set to GREEN
Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense.
Sources: Literature
Mendeliome v0.8100 PPP2R1A Elena Savva reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36 MIM#616362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Ciliopathies v0.289 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Ciliopathies v0.289 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Ciliopathies v0.289 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Meckel syndrome 7, MIM# 267010
Ciliopathies v0.288 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Ciliopathies v0.287 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.286 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755, 18371931; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540, Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Renal Ciliopathies and Nephronophthisis v0.152 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Renal Ciliopathies and Nephronophthisis v0.151 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.150 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.636 CLPB Zornitza Stark Marked gene: CLPB as ready
Mitochondrial disease v0.636 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mitochondrial disease v0.636 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Mitochondrial disease v0.635 CLPB Zornitza Stark Publications for gene: CLPB were set to
Mitochondrial disease v0.634 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.633 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.66 CLPB Zornitza Stark Marked gene: CLPB as ready
Phagocyte Defects v0.66 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Phagocyte Defects v0.66 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Phagocyte Defects v0.65 CLPB Zornitza Stark Publications for gene: CLPB were set to
Phagocyte Defects v0.64 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.63 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8100 CLPB Zornitza Stark Marked gene: CLPB as ready
Mendeliome v0.8100 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mendeliome v0.8100 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Intellectual disability syndromic and non-syndromic v0.3889 CLPB Zornitza Stark Marked gene: CLPB as ready
Intellectual disability syndromic and non-syndromic v0.3889 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mendeliome v0.8099 CLPB Zornitza Stark Publications for gene: CLPB were set to
Mendeliome v0.8098 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8097 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3889 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Intellectual disability syndromic and non-syndromic v0.3888 CLPB Zornitza Stark Publications for gene: CLPB were set to
Intellectual disability syndromic and non-syndromic v0.3887 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3886 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.85 SYK Zornitza Stark Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Disorders of immune dysregulation v0.84 SYK Zornitza Stark reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8097 SYK Zornitza Stark Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Mendeliome v0.8096 SYK Zornitza Stark reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.286 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Ciliopathies v0.286 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Ciliopathies v0.286 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Ciliopathies v0.285 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Ciliopathies v0.284 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.283 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.68 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Skeletal Ciliopathies v0.68 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.68 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Skeletal Ciliopathies v0.67 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Skeletal Ciliopathies v0.66 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.65 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8096 PON1 Zornitza Stark Marked gene: PON1 as ready
Mendeliome v0.8096 PON1 Zornitza Stark Gene: pon1 has been classified as Red List (Low Evidence).
Mendeliome v0.8096 PON1 Zornitza Stark Phenotypes for gene: PON1 were changed from to {Coronary artery disease, susceptibility to}
Callosome v0.299 ROBO2 Bryony Thompson Tag for review tag was added to gene: ROBO2.
Cataract v0.279 CTDP1 Zornitza Stark Classified gene: CTDP1 as Green List (high evidence)
Cataract v0.279 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Mendeliome v0.8095 PON1 Zornitza Stark Classified gene: PON1 as Red List (low evidence)
Mendeliome v0.8095 PON1 Zornitza Stark Gene: pon1 has been classified as Red List (Low Evidence).
Mendeliome v0.8094 PON1 Zornitza Stark reviewed gene: PON1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, susceptibility to}; Mode of inheritance: None
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.18 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Stroke v1.4 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Stroke v1.4 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Stroke v1.4 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Stroke v1.4 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Stroke v1.3 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.39 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Vascular Malformations_Germline v1.1 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Cerebral vascular malformations v0.18 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Stroke v1.3 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Stroke. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.39 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Marked gene: APPL1 as ready
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Publications for gene: APPL1 were set to
Monogenic Diabetes v0.19 APPL1 Bryony Thompson Classified gene: APPL1 as Amber List (moderate evidence)
Monogenic Diabetes v0.19 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.18 KLF11 Bryony Thompson Publications for gene: KLF11 were set to
Monogenic Diabetes v0.17 KLF11 Bryony Thompson Classified gene: KLF11 as Amber List (moderate evidence)
Monogenic Diabetes v0.17 KLF11 Bryony Thompson Gene: klf11 has been classified as Amber List (Moderate Evidence).
Repeat Disorders v0.47 CCD Bryony Thompson Classified STR: CCD as Amber List (moderate evidence)
Repeat Disorders v0.47 CCD Bryony Thompson Str: ccd has been classified as Amber List (Moderate Evidence).
Repeat Disorders v0.46 CCD Bryony Thompson STR: CCD was added
STR: CCD was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: CCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CCD were set to 9182765; 33811808; 20560987; 26220009; 25852448
Phenotypes for STR: CCD were set to Cleidocranial dysplasia MIM#119600
Review for STR: CCD was set to AMBER
Added comment: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein.
Only identified 2 reported polyAla repeat expansions in the literature. One family reported with 27 Ala repeats and one case reported with 20 Ala repeats (with supporting in vitro functional assay evidence). Also at least one case reported with expansion of the upstream glutamine repeat.
Sources: Expert list
Repeat Disorders v0.45 Bryony Thompson removed STR:BCCD from the panel
Cholestasis v0.195 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Cholestasis v0.195 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Cholestasis v0.195 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Cholestasis v0.194 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Cholestasis v0.193 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.192 ABCB4 Zornitza Stark reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 8666348, 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8094 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Mendeliome v0.8094 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Mendeliome v0.8094 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Mendeliome v0.8093 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Mendeliome v0.8092 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8091 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Mendeliome v0.8091 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Mendeliome v0.8091 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.26 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065; 29455859
Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia
Mode of pathogenicity for gene: OAS1 was set to Other
Review for gene: OAS1 was set to GREEN
Added comment: PMID 34145065:6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinaemia. PMID 29455859: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: Literature
Mendeliome v0.8090 OAS1 Zornitza Stark Publications for gene: OAS1 were set to
Mendeliome v0.8089 OAS1 Zornitza Stark Mode of pathogenicity for gene: OAS1 was changed from to Other
Mendeliome v0.8088 OAS1 Zornitza Stark Mode of inheritance for gene: OAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8087 OAS1 Zornitza Stark reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34145065, 29455859; Phenotypes: Autoinflammatory immunodeficiency, infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.111 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065
Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency
Review for gene: OAS1 was set to GREEN
Added comment: 6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia.
Sources: Literature
Cerebral Palsy v0.76 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Cerebral Palsy v0.76 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Cerebral Palsy v0.75 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Cerebral Palsy v0.75 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Cerebral Palsy v0.74 ADAR Zornitza Stark Marked gene: ADAR as ready
Cerebral Palsy v0.74 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Cerebral Palsy v0.74 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 33528536
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010
Review for gene: ADAR was set to GREEN
Added comment: Multiple individuals reported with CP-like phenotype in a cohort study.
Sources: Literature
Cerebral Palsy v0.72 HPDL Zornitza Stark Marked gene: HPDL as ready
Cerebral Palsy v0.72 HPDL Zornitza Stark Gene: hpdl has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.72 HPDL Zornitza Stark Classified gene: HPDL as Amber List (moderate evidence)
Cerebral Palsy v0.72 HPDL Zornitza Stark Gene: hpdl has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.71 HPDL Zornitza Stark gene: HPDL was added
gene: HPDL was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 33634263
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026; Spastic paraplegia 83, autosomal recessive, MIM# 619027
Review for gene: HPDL was set to AMBER
Added comment: Overlapping phenotype, one family reported with cerebral palsy diagnosis and bi-allelic variants in this gene.
Sources: Literature
Cerebral Palsy v0.69 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Cerebral Palsy v0.69 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.69 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978
Cerebral Palsy v0.68 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Cerebral Palsy v0.67 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.66 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911641, 11854319, 24714694; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Repeat Disorders v0.44 CCHS Bryony Thompson Classified STR: CCHS as Green List (high evidence)
Repeat Disorders v0.44 CCHS Bryony Thompson Str: cchs has been classified as Green List (High Evidence).
Repeat Disorders v0.43 CCHS Bryony Thompson STR: CCHS was added
STR: CCHS was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: CCHS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CCHS were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: CCHS were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Review for STR: CCHS was set to GREEN
STR: CCHS was marked as clinically relevant
Added comment: NM_003924​.3:c.721_723[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect.
Normal: 20 GCN (alanine) repeats
Uncertain significance: 21-23 GCN repeats have not been described in CCHS to date.
Later onset: 24 GCN repeats and a subset of individuals with 25 GCN repeats may have a very mild phenotype with delayed onset of the disorder and/or manifestations only when the individual is exposed to respiratory depressants and/or has severe intercurrent pulmonary illness.
Neonatal onset: 26-33 GCN repeats, as well as most with 25 GCN repeats, present in the newborn period
Sources: Expert list
Repeat Disorders v0.42 PHPX Bryony Thompson Marked STR: PHPX as ready
Repeat Disorders v0.42 PHPX Bryony Thompson Str: phpx has been classified as Green List (High Evidence).
Repeat Disorders v0.42 PHPX Bryony Thompson Classified STR: PHPX as Green List (high evidence)
Repeat Disorders v0.42 PHPX Bryony Thompson Str: phpx has been classified as Green List (High Evidence).
Repeat Disorders v0.41 PHPX Bryony Thompson STR: PHPX was added
STR: PHPX was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: PHPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: PHPX were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: PHPX were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Review for STR: PHPX was set to GREEN
STR: PHPX was marked as clinically relevant
Added comment: NM_005634.2:c.700_702[X]
Sufficient evidence for an association with growth hormone deficiency, however limited evidence for intellectual disability. ID and growth hormone deficiency identified in a single family with 26 Ala repeats (11 Ala expansion). 22 Ala repeats (7 Ala expansion) has been identified in two families with hypopituitarism (without ID). Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein,
Sources: Expert list
Cerebral Palsy v0.66 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Cerebral Palsy v0.66 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.66 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Cerebral Palsy v0.65 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Cerebral Palsy v0.64 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.63 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27444738, 24065543; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.63 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Cerebral Palsy v0.63 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.63 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Cerebral Palsy v0.62 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Cerebral Palsy v0.61 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.60 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24065543, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Marked gene: FREM1 as ready
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Gene: frem1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Classified gene: FREM1 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Gene: frem1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v1.1 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to 32016392
Phenotypes for gene: FREM1 were set to Congenital diaphragmatic hernia
Review for gene: FREM1 was set to AMBER
Added comment: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes.
Sources: Literature
Congenital diaphragmatic hernia v1.0 Zornitza Stark promoted panel to version 1.0
Congenital diaphragmatic hernia v0.96 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital diaphragmatic hernia v0.95 ALG12 Zornitza Stark Classified gene: ALG12 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.95 ALG12 Zornitza Stark Gene: alg12 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.94 ALG12 Zornitza Stark changed review comment from: Single individual reported with CDH.
Sources: Literature; to: Two individuals reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.94 ALG12 Zornitza Stark edited their review of gene: ALG12: Changed rating: AMBER; Changed phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA4 were set to 33461977
Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609
Review for gene: SMARCA4 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 33461977
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354
Review for gene: RASA1 was set to RED
Added comment: Single individual reported as part of a cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to 33461977
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Review for gene: PDHA1 was set to RED
Added comment: Single individual reported as part of a cohort. Note variants in this gene can cause congenital anomalies.
Sources: Literature
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCPH1 were set to 33461977
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Review for gene: MCPH1 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 33461977
Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Review for gene: FOXP1 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 33461977; 27663689
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, MIM# 153400
Review for gene: FOXC2 was set to RED
Added comment: Single individual reported with CDH, some supportive functional data.
Sources: Literature
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Classified gene: FBN1 as Green List (high evidence)
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.87 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 31829751; 33461977
Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700
Review for gene: FBN1 was set to GREEN
Added comment: CDH is a rare feature of FBN1-associated disease.
Sources: Literature
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark Gene: brca2 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, MIM# 605724
Review for gene: BRCA2 was set to RED
Added comment: Single affected individual reported, although FA is a multiple congenital anomaly syndrome.
Sources: Literature
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark edited their review of gene: ANKRD11: Changed rating: RED; Changed phenotypes: KBG syndrome, MIM# 148050
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 33461977
Phenotypes for gene: ANKRD11 were set to KBG syndrome, MIM# 148050
Review for gene: ANKRD11 was set to GREEN
Added comment: Single individual reported.
Sources: Literature
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 33461977
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, MIM# 607143
Review for gene: ALG12 was set to RED
Added comment: Single individual reported with CDH.
Sources: Literature
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Classified gene: ABL1 as Green List (high evidence)
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.82 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABL1 were set to 33461977; 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MIM# 617602
Review for gene: ABL1 was set to GREEN
Added comment: Congenital diaphragmatic hernia reported in at least 3 individuals.
Sources: Literature
Mendeliome v0.8087 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Mendeliome v0.8087 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8087 SLIT3 Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence)
Mendeliome v0.8087 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8086 SLIT3 Zornitza Stark gene: SLIT3 was added
gene: SLIT3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 33933663
Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia
Review for gene: SLIT3 was set to AMBER
Added comment: Two affected individuals, single family, supportive mouse model.
Sources: Literature
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.80 SLIT3 Zornitza Stark gene: SLIT3 was added
gene: SLIT3 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 33933663
Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia
Review for gene: SLIT3 was set to AMBER
Added comment: Two affected individuals, single family, supportive mouse model.
Sources: Literature
Congenital diaphragmatic hernia v0.79 WT1 Zornitza Stark Marked gene: WT1 as ready
Congenital diaphragmatic hernia v0.79 WT1 Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.79 WT1 Zornitza Stark Phenotypes for gene: WT1 were changed from to Denys-Drash syndrome, MIM# 194080
Congenital diaphragmatic hernia v0.78 WT1 Zornitza Stark Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.77 WT1 Zornitza Stark reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Denys-Drash syndrome, MIM# 194080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.77 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Congenital diaphragmatic hernia v0.77 SMC3 Zornitza Stark Gene: smc3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.77 SMC3 Zornitza Stark Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3, MIM# 610759
Congenital diaphragmatic hernia v0.76 SMC3 Zornitza Stark Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.75 SMC3 Zornitza Stark Classified gene: SMC3 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.75 SMC3 Zornitza Stark Gene: smc3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.74 SMC3 Zornitza Stark reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 3, MIM# 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.74 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Congenital diaphragmatic hernia v0.74 SMC1A Zornitza Stark Gene: smc1a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.74 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2, MIM# 300590
Congenital diaphragmatic hernia v0.73 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A 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)
Congenital diaphragmatic hernia v0.72 SMC1A Zornitza Stark Classified gene: SMC1A as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.72 SMC1A Zornitza Stark Gene: smc1a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.71 SMC1A Zornitza Stark reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.71 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Congenital diaphragmatic hernia v0.71 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.71 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from to Cornelia de Lange syndrome 4, MIM# 614701
Congenital diaphragmatic hernia v0.70 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Congenital diaphragmatic hernia v0.69 RAD21 Zornitza Stark Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.68 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 30125677; Phenotypes: Cornelia de Lange syndrome 4, MIM# 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.68 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Congenital diaphragmatic hernia v0.68 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.68 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Congenital diaphragmatic hernia v0.67 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Congenital diaphragmatic hernia v0.66 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.65 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.65 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.64 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: None
Clefting disorders v0.130 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Clefting disorders v0.130 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Clefting disorders v0.130 IGF2 Zornitza Stark Classified gene: IGF2 as Green List (high evidence)
Clefting disorders v0.130 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Classified gene: IGF2 as Green List (high evidence)
Pierre Robin Sequence v0.32 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.117 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Congenital Heart Defect v0.117 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.117 IGF2 Zornitza Stark Classified gene: IGF2 as Green List (high evidence)
Congenital Heart Defect v0.117 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.209 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Differences of Sex Development v0.209 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.209 IGF2 Zornitza Stark Classified gene: IGF2 as Green List (high evidence)
Differences of Sex Development v0.209 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Added comment: Comment when marking as ready: CK markedly raised in some.
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 to Cutis laxa, autosomal recessive, type IID MIM#617403
Muscular dystrophy and myopathy_Paediatric v0.90 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.90 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Clefting disorders v0.129 IGF2 Elena Savva gene: IGF2 was added
gene: IGF2 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to PMID: 31544945
Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489
Review for gene: IGF2 was set to GREEN
Added comment: PMID: 31544945 - cleft palate reported in 6/14 patients with SRS
Sources: Literature
Pierre Robin Sequence v0.31 IGF2 Elena Savva gene: IGF2 was added
gene: IGF2 was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to PMID: 31544945
Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489
Review for gene: IGF2 was set to GREEN
Added comment: PMID: 31544945 - micrognathia (100%, 8 families) and cleft palate (43%, 6/14 families) both reported in patients with SRS
Sources: Literature
Congenital Heart Defect v0.116 IGF2 Elena Savva gene: IGF2 was added
gene: IGF2 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to PMID: 31544945
Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489
Review for gene: IGF2 was set to GREEN
Added comment: PMID: 31544945 - cardiovascular anomalies reported in 50% of patients
Sources: Literature
Differences of Sex Development v0.208 IGF2 Elena Savva gene: IGF2 was added
gene: IGF2 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to PMID: 31544945
Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489
Review for gene: IGF2 was set to GREEN
Added comment: PMID: 31544945 - 60% of patients reported some form of DSD including hypospadias, cryptochidism, abnormal scrotum etc.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.89 ATP6V1A Elena Savva gene: ATP6V1A was added
gene: ATP6V1A was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to PMID: 28065471; 33320377
Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012
Review for gene: ATP6V1A was set to GREEN
Added comment: 3 families were reported with elevated CK levels in patients with cutis laxa AR phenotype
Sources: Literature
Congenital diaphragmatic hernia v0.64 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Congenital diaphragmatic hernia v0.64 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.64 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1, MIM# 117550
Congenital diaphragmatic hernia v0.63 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Congenital diaphragmatic hernia v0.62 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.61 NSD1 Zornitza Stark Classified gene: NSD1 as Red List (low evidence)
Congenital diaphragmatic hernia v0.61 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.60 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: 29966037; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.60 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Congenital diaphragmatic hernia v0.60 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.60 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM# 122470
Congenital diaphragmatic hernia v0.59 NIPBL Zornitza Stark Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.58 NIPBL Zornitza Stark reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.58 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Congenital diaphragmatic hernia v0.58 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.58 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM# 222448
Congenital diaphragmatic hernia v0.57 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.56 LRP2 Zornitza Stark reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM# 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.56 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Congenital diaphragmatic hernia v0.56 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark changed review comment from: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature.; to: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature; however, 4 identified in this CDH cohort.
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark edited their review of gene: KMT2D: Changed rating: GREEN
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920
Congenital diaphragmatic hernia v0.54 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Congenital diaphragmatic hernia v0.53 KMT2D Zornitza Stark Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.52 KMT2D Zornitza Stark Classified gene: KMT2D as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.52 KMT2D Zornitza Stark Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.51 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: None; Publications: 33461977; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.51 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Congenital diaphragmatic hernia v0.51 KDM6A Zornitza Stark Gene: kdm6a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.51 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2, MIM# 300867
Congenital diaphragmatic hernia v0.50 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A 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)
Congenital diaphragmatic hernia v0.49 KDM6A Zornitza Stark Classified gene: KDM6A as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.49 KDM6A Zornitza Stark Gene: kdm6a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.48 KDM6A Zornitza Stark reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, MIM# 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.48 HCCS Zornitza Stark Marked gene: HCCS as ready
Congenital diaphragmatic hernia v0.48 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.48 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Congenital diaphragmatic hernia v0.47 HCCS Zornitza Stark Mode of inheritance for gene: HCCS 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)
Congenital diaphragmatic hernia v0.46 HCCS Zornitza Stark reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.46 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Congenital diaphragmatic hernia v0.46 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.46 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Congenital diaphragmatic hernia v0.45 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.44 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.44 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Congenital diaphragmatic hernia v0.44 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.44 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia
Congenital diaphragmatic hernia v0.43 EFNB1 Zornitza Stark Publications for gene: EFNB1 were set to
Congenital diaphragmatic hernia v0.42 EFNB1 Zornitza Stark Mode of inheritance for gene: EFNB1 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)
Congenital diaphragmatic hernia v0.41 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32022998, 30469162, 21782985, 21064195, 20734337, 30469162; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110, Diaphragmatic hernia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.41 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Congenital diaphragmatic hernia v0.41 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.41 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Congenital diaphragmatic hernia v0.40 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.39 DLL3 Zornitza Stark Classified gene: DLL3 as Red List (low evidence)
Congenital diaphragmatic hernia v0.39 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.38 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.38 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Congenital diaphragmatic hernia v0.38 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.38 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Congenital diaphragmatic hernia v0.37 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Congenital diaphragmatic hernia v0.36 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.35 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.35 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.34 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17576576, 24185968; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8085 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency; Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Common variable immunodeficiency; Early-onset autoimmunity
Mendeliome v0.8084 SOCS1 Zornitza Stark edited their review of gene: SOCS1: Changed phenotypes: Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375, Early-onset autoimmunity
Disorders of immune dysregulation v0.84 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity
Disorders of immune dysregulation v0.83 SOCS1 Zornitza Stark edited their review of gene: SOCS1: Changed phenotypes: Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375, Early-onset autoimmunity
Mendeliome v0.8084 LCP2 Zornitza Stark Phenotypes for gene: LCP2 were changed from Severe combined immunodeficiency to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency
Mendeliome v0.8083 LCP2 Zornitza Stark edited their review of gene: LCP2: Changed phenotypes: Immunodeficiency 81, MIM# 619374, Severe combined immunodeficiency
Repeat Disorders v0.40 BCCD Bryony Thompson edited their review of STR: BCCD: Changed publications: 9182765, 33811808, 20560987, 26220009
Repeat Disorders v0.40 BCCD Bryony Thompson changed review comment from: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17 (18 have been reported in the Danish population)
Pathogenic repeat number: 27
Sources: Expert list; to: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17 (18 have been reported in the Danish population)
Pathogenic repeat number: 27 (1 case with 20 Ala have been reported)
Sources: Expert list
Repeat Disorders v0.40 BCCD Bryony Thompson changed review comment from: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17
Pathogenic repeat number: 27
Sources: Expert list; to: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17 (18 have been reported in the Danish population)
Pathogenic repeat number: 27
Sources: Expert list
Repeat Disorders v0.40 BCCD Bryony Thompson edited their review of STR: BCCD: Changed publications: 9182765, 33811808, 20560987
Repeat Disorders v0.40 SPD1 Bryony Thompson changed review comment from: NM_000523.4(HOXD13):c.212_213GCG[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
Normal repeat number: 15
Pathogenic repeat number: 24
Sources: Expert list; to: NM_000523.4(HOXD13):c.212_213GCG[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
Normal repeat number: 15
Pathogenic repeat number: 24
Truncation of repeat also reported
Sources: Expert list
Repeat Disorders v0.40 SPD1 Bryony Thompson edited their review of STR: SPD1: Changed publications: 8817328, 33811808, 33533119
Repeat Disorders v0.40 EIEE1_tract2 Bryony Thompson Marked STR: EIEE1_tract2 as ready
Repeat Disorders v0.40 EIEE1_tract2 Bryony Thompson Str: eiee1_tract2 has been classified as Green List (High Evidence).
Repeat Disorders v0.40 EIEE1_tract2 Bryony Thompson Classified STR: EIEE1_tract2 as Green List (high evidence)
Repeat Disorders v0.40 EIEE1_tract2 Bryony Thompson Str: eiee1_tract2 has been classified as Green List (High Evidence).
Repeat Disorders v0.39 EIEE1_tract2 Bryony Thompson STR: EIEE1_tract2 was added
STR: EIEE1_tract2 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: EIEE1_tract2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: EIEE1_tract2 were set to 11889467; 33811808
Phenotypes for STR: EIEE1_tract2 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510
Review for STR: EIEE1_tract2 was set to GREEN
STR: EIEE1_tract2 was marked as clinically relevant
Added comment: NM_139058.3(ARX):c.429GGC[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
PolyAla tract 2 of 2 polyAla tracts associated with disease
Normal repeat number: 12
Pathogenic repeat number: 20
Sources: Expert list
Repeat Disorders v0.38 EIEE1_tract1 Bryony Thompson Marked STR: EIEE1_tract1 as ready
Repeat Disorders v0.38 EIEE1_tract1 Bryony Thompson Str: eiee1_tract1 has been classified as Green List (High Evidence).
Repeat Disorders v0.38 EIEE1_tract1 Bryony Thompson Classified STR: EIEE1_tract1 as Green List (high evidence)
Repeat Disorders v0.38 EIEE1_tract1 Bryony Thompson Str: eiee1_tract1 has been classified as Green List (High Evidence).
Repeat Disorders v0.37 EIEE1_tract1 Bryony Thompson STR: EIEE1_tract1 was added
STR: EIEE1_tract1 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: EIEE1_tract1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: EIEE1_tract1 were set to 11889467; 33811808
Phenotypes for STR: EIEE1_tract1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510
Review for STR: EIEE1_tract1 was set to GREEN
STR: EIEE1_tract1 was marked as clinically relevant
Added comment: NM_139058.3(ARX):c.306GGC[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
PolyAla tract 1 of 2 polyAla tracts associated with disease
Normal repeat number: 16
Pathogenic repeat number: 23
Sources: Expert list
Repeat Disorders v0.36 HPE5 Bryony Thompson Marked STR: HPE5 as ready
Repeat Disorders v0.36 HPE5 Bryony Thompson Str: hpe5 has been classified as Green List (High Evidence).
Repeat Disorders v0.36 HPE5 Bryony Thompson Classified STR: HPE5 as Green List (high evidence)
Repeat Disorders v0.36 HPE5 Bryony Thompson Str: hpe5 has been classified as Green List (High Evidence).
Repeat Disorders v0.35 HPE5 Bryony Thompson STR: HPE5 was added
STR: HPE5 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: HPE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HPE5 were set to 11285244; 33811808
Phenotypes for STR: HPE5 were set to Holoprosencephaly 5 MIM#609637
Review for STR: HPE5 was set to GREEN
STR: HPE5 was marked as clinically relevant
Added comment: NM_007129.5(ZIC2):c.1366GCN[X]
Mechanism of disease is polyAlanine tract leading to a loss of function of the protein
Normal repeat number: 15
Pathogenic repeat number: 25
Sources: Expert list
Repeat Disorders v0.34 BPES Bryony Thompson Marked STR: BPES as ready
Repeat Disorders v0.34 BPES Bryony Thompson Str: bpes has been classified as Green List (High Evidence).
Repeat Disorders v0.34 BPES Bryony Thompson Classified STR: BPES as Green List (high evidence)
Repeat Disorders v0.34 BPES Bryony Thompson Str: bpes has been classified as Green List (High Evidence).
Repeat Disorders v0.33 BPES Bryony Thompson STR: BPES was added
STR: BPES was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: BPES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: BPES were set to 11468277; 33811808
Phenotypes for STR: BPES were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996
Review for STR: BPES was set to GREEN
STR: BPES was marked as clinically relevant
Added comment: NM_023067.2:c.661_702[X]
Mechanism of disease is polyAlanine tract leading to a loss of function of the protein
Normal repeat number: 14
Pathogenic repeat number: 19-24
Sources: Expert list
Mendeliome v0.8083 IQGAP3 Zornitza Stark Marked gene: IQGAP3 as ready
Mendeliome v0.8083 IQGAP3 Zornitza Stark Gene: iqgap3 has been classified as Red List (Low Evidence).
Mendeliome v0.8083 IQGAP3 Zornitza Stark gene: IQGAP3 was added
gene: IQGAP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IQGAP3 were set to Hereditary neuropathy
Review for gene: IQGAP3 was set to RED
Added comment: Single multiplex family, intronic variant, limited functional data.
Sources: Literature
Repeat Disorders v0.32 HDL2 Bryony Thompson Marked STR: HDL2 as ready
Repeat Disorders v0.32 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Repeat Disorders v0.32 HDL2 Bryony Thompson Classified STR: HDL2 as Green List (high evidence)
Repeat Disorders v0.32 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Repeat Disorders v0.31 HDL2 Bryony Thompson STR: HDL2 was added
STR: HDL2 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HDL2 were set to 11558794; 20301701
Phenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438
Review for STR: HDL2 was set to GREEN
STR: HDL2 was marked as clinically relevant
Added comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]
In an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein
Normal: ≤28 repeats
Questionable significance: 29-39 repeats, mutable normal or reduced penetrance included
Full penetrance: ≥40 repeats
Sources: Expert list
Repeat Disorders v0.30 HFGS_tract3 Bryony Thompson Marked STR: HFGS_tract3 as ready
Repeat Disorders v0.30 HFGS_tract3 Bryony Thompson Str: hfgs_tract3 has been classified as Green List (High Evidence).
Repeat Disorders v0.30 HFGS_tract3 Bryony Thompson Classified STR: HFGS_tract3 as Green List (high evidence)
Repeat Disorders v0.30 HFGS_tract3 Bryony Thompson Str: hfgs_tract3 has been classified as Green List (High Evidence).
Repeat Disorders v0.29 HFGS_tract3 Bryony Thompson STR: HFGS_tract3 was added
STR: HFGS_tract3 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: HFGS_tract3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HFGS_tract3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HFGS_tract3 were set to Hand-foot-uterus syndrome MIM#140000
Review for STR: HFGS_tract3 was set to GREEN
STR: HFGS_tract3 was marked as clinically relevant
Added comment: NM_000522.5(HOXA13):c.357_359[X]
Expected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
PolyAla tract 3 of the 3 N-terminal polyAla tracts
Normal repeat number: 18
Pathogenic repeat number: 24-30
Sources: Expert list
Repeat Disorders v0.28 HFGS_tract2 Bryony Thompson Classified STR: HFGS_tract2 as Green List (high evidence)
Repeat Disorders v0.28 HFGS_tract2 Bryony Thompson Str: hfgs_tract2 has been classified as Green List (High Evidence).
Repeat Disorders v0.27 HFGS_tract2 Bryony Thompson STR: HFGS_tract2 was added
STR: HFGS_tract2 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: HFGS_tract2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HFGS_tract2 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HFGS_tract2 were set to Hand-foot-uterus syndrome MIM#140000
Review for STR: HFGS_tract2 was set to GREEN
STR: HFGS_tract2 was marked as clinically relevant
Added comment: NM_000522.5(HOXA13):c.217_219[X]
Expected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
PolyAla tract 2 of the 3 N-terminal polyAla tracts
Normal repeat number: 12
Pathogenic repeat number: 18
Sources: Expert list
Repeat Disorders v0.26 HFGS_tract1 Bryony Thompson Marked STR: HFGS_tract1 as ready
Repeat Disorders v0.26 HFGS_tract1 Bryony Thompson Str: hfgs_tract1 has been classified as Green List (High Evidence).
Repeat Disorders v0.26 HFGS_tract1 Bryony Thompson Classified STR: HFGS_tract1 as Green List (high evidence)
Repeat Disorders v0.26 HFGS_tract1 Bryony Thompson Str: hfgs_tract1 has been classified as Green List (High Evidence).
Repeat Disorders v0.25 HFGS_tract1 Bryony Thompson STR: HFGS_tract1 was added
STR: HFGS_tract1 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: HFGS_tract1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HFGS_tract1 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HFGS_tract1 were set to Hand-foot-uterus syndrome MIM#140000
Review for STR: HFGS_tract1 was set to GREEN
STR: HFGS_tract1 was marked as clinically relevant
Added comment: NM_000522.5(HOXA13):c.126_128[X]
Expected mechanism of disease is a polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
PolyAla tract 1 of the 3 N-terminal polyAla tracts
Normal repeat number: 14-16
Pathogenic repeat number: 22
Sources: Expert list
Regression v0.346 SCA17 Bryony Thompson Marked STR: SCA17 as ready
Regression v0.346 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Regression v0.346 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Regression v0.346 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Regression v0.345 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Regression. Sources: Expert list
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 10484774; 20301611; 29325606
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert list
Repeat Disorders v0.24 SCA17 Bryony Thompson Marked STR: SCA17 as ready
Repeat Disorders v0.24 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Repeat Disorders v0.24 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Repeat Disorders v0.24 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Repeat Disorders v0.23 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 10484774; 20301611; 29325606
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert list
Regression v0.344 TBP Bryony Thompson Classified gene: TBP as No list
Regression v0.344 TBP Bryony Thompson Added comment: Comment on list classification: Only STR reported as pathogenic in this gene. Added as an STR under SCA17
Regression v0.344 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Repeat Disorders v0.22 OPMD Bryony Thompson Classified STR: OPMD as Green List (high evidence)
Repeat Disorders v0.22 OPMD Bryony Thompson Str: opmd has been classified as Green List (High Evidence).
Repeat Disorders v0.21 OPMD Bryony Thompson STR: OPMD was added
STR: OPMD was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: OPMD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: OPMD were set to 9462747; 20301305
Phenotypes for STR: OPMD were set to Oculopharyngeal muscular dystrophy MIM#164300
Review for STR: OPMD was set to GREEN
STR: OPMD was marked as clinically relevant
Added comment: NM_004643.3:c.4_6[X]
Expected gain of function mechanism of disease
Normal allele: (GCN)10 / Ala10
Autosomal recessive: (GCN)11/Ala11
Autosomal dominant: (GCN)12-17
Sources: Expert list
Repeat Disorders v0.20 BCCD Bryony Thompson Marked STR: BCCD as ready
Repeat Disorders v0.20 BCCD Bryony Thompson Str: bccd has been classified as Green List (High Evidence).
Repeat Disorders v0.20 BCCD Bryony Thompson Classified STR: BCCD as Green List (high evidence)
Repeat Disorders v0.20 BCCD Bryony Thompson Str: bccd has been classified as Green List (High Evidence).
Repeat Disorders v0.19 BCCD Bryony Thompson changed review comment from: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechansim of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17
Pathogenic repeat number: 27
Sources: Expert list; to: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17
Pathogenic repeat number: 27
Sources: Expert list
Repeat Disorders v0.19 BCCD Bryony Thompson STR: BCCD was added
STR: BCCD was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: BCCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: BCCD were set to 9182765; 33811808
Phenotypes for STR: BCCD were set to Cleidocranial dysplasia MIM#119600
Review for STR: BCCD was set to GREEN
STR: BCCD was marked as clinically relevant
Added comment: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechansim of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein
Normal repeat number: 17
Pathogenic repeat number: 27
Sources: Expert list
Repeat Disorders v0.18 SCA6 Bryony Thompson Marked STR: SCA6 as ready
Repeat Disorders v0.18 SCA6 Bryony Thompson Str: sca6 has been classified as Green List (High Evidence).
Repeat Disorders v0.18 SCA6 Bryony Thompson Classified STR: SCA6 as Green List (high evidence)
Repeat Disorders v0.18 SCA6 Bryony Thompson Str: sca6 has been classified as Green List (High Evidence).
Repeat Disorders v0.17 SCA6 Bryony Thompson STR: SCA6 was added
STR: SCA6 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SCA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA6 were set to 8988170; 20301319; 29325606
Phenotypes for STR: SCA6 were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500
Review for STR: SCA6 was set to GREEN
STR: SCA6 was marked as clinically relevant
Added comment: NM_023035.2:c.6929_6931CAG[X]
PolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function
Normal: ≤18 repeats
Questionable significance: 19 CAG repeats
Full penetrance: ≥20 repeats
Sources: Expert list
Repeat Disorders v0.16 SPD1 Bryony Thompson Marked STR: SPD1 as ready
Repeat Disorders v0.16 SPD1 Bryony Thompson Str: spd1 has been classified as Green List (High Evidence).
Repeat Disorders v0.16 SPD1 Bryony Thompson Classified STR: SPD1 as Green List (high evidence)
Repeat Disorders v0.16 SPD1 Bryony Thompson Str: spd1 has been classified as Green List (High Evidence).
Repeat Disorders v0.15 SPD1 Bryony Thompson STR: SPD1 was added
STR: SPD1 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SPD1 were set to 8817328; 33811808
Phenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000
Review for STR: SPD1 was set to GREEN
STR: SPD1 was marked as clinically relevant
Added comment: NM_000523.4(HOXD13):c.212_213GCG[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
Normal repeat number: 15
Pathogenic repeat number: 24
Sources: Expert list
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Marked STR: SCA7 as ready
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Classified STR: SCA7 as Green List (high evidence)
Syndromic Retinopathy v0.169 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Repeat Disorders v0.14 SCA7 Bryony Thompson Marked STR: SCA7 as ready
Repeat Disorders v0.14 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Repeat Disorders v0.14 SCA7 Bryony Thompson Classified STR: SCA7 as Green List (high evidence)
Repeat Disorders v0.14 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.168 SCA7 Bryony Thompson STR: SCA7 was added
STR: SCA7 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA7 were set to 8908515; 29325606; 20301433
Phenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: SCA7 was set to GREEN
STR: SCA7 was marked as clinically relevant
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Literature
Repeat Disorders v0.13 SCA7 Bryony Thompson STR: SCA7 was added
STR: SCA7 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA7 were set to 8908515; 29325606; 20301433
Phenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: SCA7 was set to GREEN
STR: SCA7 was marked as clinically relevant
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Expert list
Syndromic Retinopathy v0.167 ATXN7 Bryony Thompson Classified gene: ATXN7 as No list
Syndromic Retinopathy v0.167 ATXN7 Bryony Thompson Added comment: Comment on list classification: Added to panel as an STR under SCA7
Syndromic Retinopathy v0.167 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Repeat Disorders v0.12 SCA2 Bryony Thompson Marked STR: SCA2 as ready
Repeat Disorders v0.12 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Repeat Disorders v0.12 SCA2 Bryony Thompson Classified STR: SCA2 as Green List (high evidence)
Repeat Disorders v0.12 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Repeat Disorders v0.11 SCA2 Bryony Thompson STR: SCA2 was added
STR: SCA2 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA2 were set to 8896555; 29325606; 20301452
Phenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090
Review for STR: SCA2 was set to GREEN
STR: SCA2 was marked as clinically relevant
Added comment: NM_002973​.3:c.496_498CAG[X]
Toxic protein aggregation is mechanism of disease
Benign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)
Uncertain: 32 repeats
ALS risk allele: 30-32 repeats
Reduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life
Full penetrance: ≥35 repeats
Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat
Sources: Expert list
Repeat Disorders v0.10 SCA3 Bryony Thompson Marked STR: SCA3 as ready
Repeat Disorders v0.10 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Repeat Disorders v0.10 SCA3 Bryony Thompson Classified STR: SCA3 as Green List (high evidence)
Repeat Disorders v0.10 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Repeat Disorders v0.9 SCA3 Bryony Thompson STR: SCA3 was added
STR: SCA3 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA3 were set to 7874163; 20301375; 29325606
Phenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3
Review for STR: SCA3 was set to GREEN
STR: SCA3 was marked as clinically relevant
Added comment: NM_004993​.5:c.886_888CAG[X]
Toxic aggregation and mislocalization in neurons is mechanism of disease
Normal: ≤44 repeats, mostly <31 repeats
Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3
Pathogenic (full penetrance): ≥60 repeats
Sources: Expert list
Repeat Disorders v0.8 DRPLA Bryony Thompson Marked STR: DRPLA as ready
Repeat Disorders v0.8 DRPLA Bryony Thompson Str: drpla has been classified as Green List (High Evidence).
Repeat Disorders v0.8 DRPLA Bryony Thompson Classified STR: DRPLA as Green List (high evidence)
Repeat Disorders v0.8 DRPLA Bryony Thompson Str: drpla has been classified as Green List (High Evidence).
Repeat Disorders v0.7 DRPLA Bryony Thompson STR: DRPLA was added
STR: DRPLA was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: DRPLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DRPLA were set to 8136840; 8136826; 29325606; 20301664
Phenotypes for STR: DRPLA were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Review for STR: DRPLA was set to GREEN
STR: DRPLA was marked as clinically relevant
Added comment: NM_001007026​.1:c.1462_1464CAG[X]
Toxic gain of function mechanism of disease
Benign: ≤35 repeats
Mutable normal: 20-35 repeats
Pathogenic: ≥48 repeats
Age <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance
Sources: Expert list
Repeat Disorders v0.6 SCA1 Bryony Thompson Marked STR: SCA1 as ready
Repeat Disorders v0.6 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Repeat Disorders v0.6 SCA1 Bryony Thompson Classified STR: SCA1 as Green List (high evidence)
Repeat Disorders v0.6 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Repeat Disorders v0.5 SCA1 Bryony Thompson STR: SCA1 was added
STR: SCA1 was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA1 were set to 8358429; 29325606; 20301363
Phenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400
Review for STR: SCA1 was set to GREEN
STR: SCA1 was marked as clinically relevant
Added comment: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions
Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions
Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs
Sources: Expert list
Incidentalome v0.71 HD Bryony Thompson Classified STR: HD as Green List (high evidence)
Incidentalome v0.71 HD Bryony Thompson Str: hd has been classified as Green List (High Evidence).
Incidentalome v0.70 HD Bryony Thompson Marked STR: HD as ready
Incidentalome v0.70 HD Bryony Thompson Str: hd has been classified as Red List (Low Evidence).
Incidentalome v0.70 HD Bryony Thompson STR: HD was added
STR: HD was added to Incidentalome. Sources: Expert list
Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HD were set to 8458085; 20301482; 29325606
Phenotypes for STR: HD were set to Huntington disease MIM#143100
Review for STR: HD was set to GREEN
STR: HD was marked as clinically relevant
Added comment: NM_002111.8:c.52_54CAG[X]
Primary mechanism of disease is gain of function
Normal: ≤26 repeats
Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation
Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms
Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span
Sources: Expert list
Repeat Disorders v0.4 HD Bryony Thompson Marked STR: HD as ready
Repeat Disorders v0.4 HD Bryony Thompson Str: hd has been classified as Green List (High Evidence).
Repeat Disorders v0.4 HD Bryony Thompson Classified STR: HD as Green List (high evidence)
Repeat Disorders v0.4 HD Bryony Thompson Str: hd has been classified as Green List (High Evidence).
Repeat Disorders v0.3 HD Bryony Thompson STR: HD was added
STR: HD was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HD were set to 8458085; 20301482; 29325606
Phenotypes for STR: HD were set to Huntington disease MIM#143100
Review for STR: HD was set to GREEN
STR: HD was marked as clinically relevant
Added comment: NM_002111.8:c.52_54CAG[X]
Primary mechanism of disease is gain of function
Normal: ≤26 repeats
Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation
Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms
Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span
Sources: Expert list
Incidentalome v0.69 HTT Bryony Thompson Classified gene: HTT as No list
Incidentalome v0.69 HTT Bryony Thompson Added comment: Comment on list classification: Included on the panel as an STR under HD
Incidentalome v0.69 HTT Bryony Thompson Gene: htt has been removed from the panel.
Repeat Disorders v0.2 SBMA Bryony Thompson Marked STR: SBMA as ready
Repeat Disorders v0.2 SBMA Bryony Thompson Str: sbma has been classified as Green List (High Evidence).
Repeat Disorders v0.2 SBMA Bryony Thompson Classified STR: SBMA as Green List (high evidence)
Repeat Disorders v0.2 SBMA Bryony Thompson Str: sbma has been classified as Green List (High Evidence).
Repeat Disorders v0.1 SBMA Bryony Thompson STR: SBMA was added
STR: SBMA was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SBMA were set to 2062380; 20301508; 29325606
Phenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Review for STR: SBMA was set to GREEN
STR: SBMA was marked as clinically relevant
Added comment: NM_000044.4:c.172_174CAG[X]
Toxic gain of function mechanism of disease
Normal: ≤34 repeats
Unknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members
Reduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.
Full-penetrance: ≥38 repeats
Sources: Expert list
Repeat Disorders v0.0 Bryony Thompson Added Panel Repeat Disorders
Set panel types to: Royal Melbourne Hospital; Rare Disease
Congenital diaphragmatic hernia v0.34 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Congenital diaphragmatic hernia v0.34 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.34 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650
Congenital diaphragmatic hernia v0.33 CDKN1C Zornitza Stark Classified gene: CDKN1C as Red List (low evidence)
Congenital diaphragmatic hernia v0.33 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.32 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None
Bone Marrow Failure v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.8082 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Mendeliome v0.8082 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Mendeliome v0.8082 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Mendeliome v0.8081 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Mendeliome v0.8080 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8079 TINF2 Zornitza Stark edited their review of gene: TINF2: Added comment: RS is a severe variant of DKC with early bone marrow failure and retinopathy. Well established gene-disease associations.; Changed publications: 18252230, 21477109, 18979121, 18669893, 21199492, 33097095; Changed phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130
Bone Marrow Failure v0.319 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Bone Marrow Failure v0.319 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.319 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Bone Marrow Failure v0.318 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Bone Marrow Failure v0.317 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.316 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669893, 21199492, 18252230, 21477109, 33097095; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.316 TERT Zornitza Stark Marked gene: TERT as ready
Bone Marrow Failure v0.316 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Bone Marrow Failure v0.316 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Bone Marrow Failure v0.315 TERT Zornitza Stark Publications for gene: TERT were set to
Bone Marrow Failure v0.314 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.313 TERT Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.313 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Bone Marrow Failure v0.313 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Mendeliome v0.8079 POPDC3 Zornitza Stark changed review comment from: 5 affected individuals from 3 unrelated families reported, supportive animal model data.
Sources: Literature; to: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark changed review comment from: 5 affected individuals from 3 unrelated families reported, supportive animal model data.
Sources: Literature; to: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated.
Sources: Literature
Mendeliome v0.8079 POPDC3 Zornitza Stark Marked gene: POPDC3 as ready
Mendeliome v0.8079 POPDC3 Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence).
Mendeliome v0.8079 POPDC3 Zornitza Stark Classified gene: POPDC3 as Green List (high evidence)
Mendeliome v0.8079 POPDC3 Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence).
Mendeliome v0.8078 POPDC3 Zornitza Stark gene: POPDC3 was added
gene: POPDC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POPDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POPDC3 were set to 31610034
Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848
Review for gene: POPDC3 was set to GREEN
Added comment: 5 affected individuals from 3 unrelated families reported, supportive animal model data.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Marked gene: POPDC3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Classified gene: POPDC3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.58 POPDC3 Zornitza Stark gene: POPDC3 was added
gene: POPDC3 was added to Limb Girdle Muscular Dystrophy. Sources: Literature
Mode of inheritance for gene: POPDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POPDC3 were set to 31610034
Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848
Review for gene: POPDC3 was set to GREEN
Added comment: 5 affected individuals from 3 unrelated families reported, supportive animal model data.
Sources: Literature
Mendeliome v0.8077 ACD Zornitza Stark Marked gene: ACD as ready
Mendeliome v0.8077 ACD Zornitza Stark Gene: acd has been classified as Red List (Low Evidence).
Mendeliome v0.8077 ACD Zornitza Stark Phenotypes for gene: ACD were changed from to Dyskeratosis congenita, MIM# 616553
Mendeliome v0.8076 ACD Zornitza Stark Publications for gene: ACD were set to
Mendeliome v0.8075 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8074 ACD Zornitza Stark Classified gene: ACD as Red List (low evidence)
Mendeliome v0.8074 ACD Zornitza Stark Gene: acd has been classified as Red List (Low Evidence).
Mendeliome v0.8073 ACD Zornitza Stark reviewed gene: ACD: Rating: RED; Mode of pathogenicity: None; Publications: 25205116, 25233904; Phenotypes: Dyskeratosis congenita, MIM# 616553; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.313 ACD Zornitza Stark Marked gene: ACD as ready
Bone Marrow Failure v0.313 ACD Zornitza Stark Gene: acd has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.313 ACD Zornitza Stark Phenotypes for gene: ACD were changed from to Dyskeratosis congenita, MIM# 616553
Bone Marrow Failure v0.312 ACD Zornitza Stark Publications for gene: ACD were set to
Bone Marrow Failure v0.311 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.310 ACD Zornitza Stark Classified gene: ACD as Red List (low evidence)
Bone Marrow Failure v0.310 ACD Zornitza Stark Gene: acd has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.309 ACD Zornitza Stark reviewed gene: ACD: Rating: RED; Mode of pathogenicity: None; Publications: 25205116, 25233904; Phenotypes: Dyskeratosis congenita, MIM# 616553; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.63 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405
Phagocyte Defects v0.62 USB1 Zornitza Stark Publications for gene: USB1 were set to 25044170; 27612988
Phagocyte Defects v0.61 USB1 Zornitza Stark reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004881, 20503306, 34004352, 33624217, 33111394, 32936385, 32620997, 31522452; Phenotypes: Poikiloderma with neutropaenia, MIM# 604173, MONDO:0011405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8073 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405
Mendeliome v0.8072 USB1 Zornitza Stark Publications for gene: USB1 were set to 25044170; 27612988
Mendeliome v0.8071 USB1 Zornitza Stark reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004881, 20503306, 34004352, 33624217, 33111394, 32936385, 32620997, 31522452; Phenotypes: Poikiloderma with neutropaenia, MIM# 604173, MONDO:0011405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.309 USB1 Zornitza Stark Marked gene: USB1 as ready
Bone Marrow Failure v0.309 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.309 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405
Bone Marrow Failure v0.308 USB1 Zornitza Stark Publications for gene: USB1 were set to
Bone Marrow Failure v0.307 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.306 USB1 Zornitza Stark reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004881, 20503306, 34004352, 33624217, 33111394, 32936385, 32620997, 31522452; Phenotypes: Poikiloderma with neutropaenia, MIM# 604173, MONDO:0011405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.306 WAS Zornitza Stark Marked gene: WAS as ready
Bone Marrow Failure v0.306 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bone Marrow Failure v0.306 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Bone Marrow Failure v0.305 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.239 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Additional findings_Paediatric v0.239 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.239 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from Dyskeratosis congenita to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Additional findings_Paediatric v0.238 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Additional findings_Paediatric v0.237 WRAP53 Zornitza Stark Classified gene: WRAP53 as Green List (high evidence)
Additional findings_Paediatric v0.237 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.236 WRAP53 Zornitza Stark reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, MIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8071 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Mendeliome v0.8071 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Mendeliome v0.8071 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Mendeliome v0.8070 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Mendeliome v0.8069 WRAP53 Zornitza Stark Mode of inheritance for gene: WRAP53 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8069 WRAP53 Zornitza Stark Mode of inheritance for gene: WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8068 WRAP53 Zornitza Stark reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, MIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.304 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Bone Marrow Failure v0.304 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.304 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Bone Marrow Failure v0.303 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Bone Marrow Failure v0.302 WRAP53 Zornitza Stark Mode of inheritance for gene: WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.301 WRAP53 Zornitza Stark reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, MIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.301 TAZ Zornitza Stark Marked gene: TAZ as ready
Bone Marrow Failure v0.301 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Bone Marrow Failure v0.301 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Bone Marrow Failure v0.300 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.299 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.299 SBDS Zornitza Stark Marked gene: SBDS as ready
Bone Marrow Failure v0.299 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Bone Marrow Failure v0.299 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Bone Marrow Failure v0.298 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.297 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.297 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Bone Marrow Failure v0.297 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.297 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Bone Marrow Failure v0.296 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Bone Marrow Failure v0.295 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.294 RTEL1 Zornitza Stark reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453664, 23329068, 25848748, 25607374, 15210109; Phenotypes: Dyskeratosis congenita, MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.294 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Bone Marrow Failure v0.294 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.294 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308
Bone Marrow Failure v0.293 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Bone Marrow Failure v0.292 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.291 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Bone Marrow Failure v0.291 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.291 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anaemia 6, MIM# 612561; MONDO:0012937
Bone Marrow Failure v0.290 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Bone Marrow Failure v0.289 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.287 RMRP Zornitza Stark Marked gene: RMRP as ready
Bone Marrow Failure v0.287 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Bone Marrow Failure v0.287 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from to Cartilage-hair hypoplasia, MIM# 250250
Bone Marrow Failure v0.286 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.285 RMRP Zornitza Stark reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia, MIM# 250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8068 EP300 Zornitza Stark Marked gene: EP300 as ready
Mendeliome v0.8068 EP300 Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence).
Mendeliome v0.8068 EP300 Zornitza Stark Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome 2 MIM#613684; Menke-Hennekam syndrome 2 MIM#618333
Mendeliome v0.8067 EP300 Zornitza Stark Publications for gene: EP300 were set to
Mendeliome v0.8066 EP300 Zornitza Stark Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8065 EP300 Elena Savva reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29460469, 24381114; Phenotypes: Rubinstein-Taybi syndrome 2 MIM#613684, Menke-Hennekam syndrome 2 MIM#618333, Colorectal cancer, somatic MIM#114500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.8065 PARN Zornitza Stark Marked gene: PARN as ready
Mendeliome v0.8065 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Mendeliome v0.8065 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Mendeliome v0.8064 PARN Zornitza Stark Publications for gene: PARN were set to
Mendeliome v0.8063 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8062 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.285 PARN Zornitza Stark Marked gene: PARN as ready
Bone Marrow Failure v0.285 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Bone Marrow Failure v0.285 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Bone Marrow Failure v0.284 PARN Zornitza Stark Publications for gene: PARN were set to
Bone Marrow Failure v0.283 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.282 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Bone Marrow Failure v0.281 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Anemia, dyserythropoietic congenital, type IV to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
Additional findings_Paediatric v0.235 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Additional findings_Paediatric v0.234 KLF1 Zornitza Stark Classified gene: KLF1 as Green List (high evidence)
Additional findings_Paediatric v0.234 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.233 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8062 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Mendeliome v0.8062 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Mendeliome v0.8062 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
Mendeliome v0.8061 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Mendeliome v0.8060 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8059 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.280 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
Bone Marrow Failure v0.279 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Bone Marrow Failure v0.278 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.277 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8059 SPAG17 Zornitza Stark Marked gene: SPAG17 as ready
Mendeliome v0.8059 SPAG17 Zornitza Stark Gene: spag17 has been classified as Red List (Low Evidence).
Mendeliome v0.8059 SPAG17 Zornitza Stark gene: SPAG17 was added
gene: SPAG17 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG17 were set to 28548327
Phenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380
Review for gene: SPAG17 was set to RED
Added comment: Single family reported with two affected brothers, homozygous missense variant.
Sources: Literature
Mendeliome v0.8058 CATIP Zornitza Stark Marked gene: CATIP as ready
Mendeliome v0.8058 CATIP Zornitza Stark Gene: catip has been classified as Red List (Low Evidence).
Mendeliome v0.8058 CATIP Zornitza Stark gene: CATIP was added
gene: CATIP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CATIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CATIP were set to 32503832
Phenotypes for gene: CATIP were set to Spermatogenic failure 54, MIM# 619379
Review for gene: CATIP was set to RED
Added comment: Homozygous missense variant reported in a single consanguineous family with 4 affecteds. Limited functional data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3886 NCDN Zornitza Stark Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373
Intellectual disability syndromic and non-syndromic v0.3885 NCDN Zornitza Stark reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None
Genetic Epilepsy v0.1121 NCDN Zornitza Stark Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373
Genetic Epilepsy v0.1120 NCDN Zornitza Stark reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None
Mendeliome v0.8057 NCDN Zornitza Stark Phenotypes for gene: NCDN were changed from neurodevelopmental delay, intellectual disability, and epilepsy to Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373
Mendeliome v0.8056 NCDN Zornitza Stark reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373; Mode of inheritance: None
Phagocyte Defects v0.61 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Phagocyte Defects v0.61 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.61 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Phagocyte Defects v0.60 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Phagocyte Defects v0.59 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.58 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8056 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Mendeliome v0.8056 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Mendeliome v0.8056 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Mendeliome v0.8055 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Mendeliome v0.8054 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8053 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.277 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Bone Marrow Failure v0.277 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.277 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Bone Marrow Failure v0.276 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Bone Marrow Failure v0.275 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.274 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.633 NFS1 Zornitza Stark Publications for gene: NFS1 were set to 24498631
Mitochondrial disease v0.632 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from Complex II/III deficiency; multisystem organ failure to Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure
Mitochondrial disease v0.631 NFS1 Zornitza Stark edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure
Mendeliome v0.8053 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from Complex II/III deficiency; multisystem organ failure to Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure
Mendeliome v0.8052 NFS1 Zornitza Stark Publications for gene: NFS1 were set to 24498631
Mendeliome v0.8051 NFS1 Zornitza Stark edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure
Mitochondrial disease v0.631 DNAJC30 Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Mitochondrial disease v0.630 DNAJC30 Zornitza Stark reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.133 DNAJC30 Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Optic Atrophy v0.132 DNAJC30 Zornitza Stark edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382
Mendeliome v0.8051 DNAJC30 Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Mendeliome v0.8050 DNAJC30 Zornitza Stark edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382
Gastrointestinal neuromuscular disease v0.38 MYL9 Zornitza Stark Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Mendeliome v0.8050 MYL9 Zornitza Stark Phenotypes for gene: MYL9 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Mendeliome v0.8049 MYL9 Zornitza Stark edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Gastrointestinal neuromuscular disease v0.37 MYL9 Zornitza Stark edited their review of gene: MYL9: Changed phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Intellectual disability syndromic and non-syndromic v0.3885 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Intellectual disability syndromic and non-syndromic v0.3885 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3885 ARCN1 Zornitza Stark Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Intellectual disability syndromic and non-syndromic v0.3884 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to
Intellectual disability syndromic and non-syndromic v0.3883 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3882 ARCN1 Zornitza Stark reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476655, 33154040; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8049 ARCN1 Zornitza Stark Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Mendeliome v0.8048 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to
Mendeliome v0.8047 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8046 ARCN1 Zornitza Stark reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476655, 33154040; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8046 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Mendeliome v0.8046 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Mendeliome v0.8046 NBEAL2 Zornitza Stark Phenotypes for gene: NBEAL2 were changed from to Gray platelet syndrome, MIM# 139090
Mendeliome v0.8045 NBEAL2 Zornitza Stark Publications for gene: NBEAL2 were set to
Mendeliome v0.8044 NBEAL2 Zornitza Stark Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8043 NBEAL2 Zornitza Stark reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21765412, 21765411, 21765413; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.274 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Bone Marrow Failure v0.274 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.274 NBEAL2 Zornitza Stark Phenotypes for gene: NBEAL2 were changed from to Gray platelet syndrome, MIM# 139090
Bone Marrow Failure v0.273 NBEAL2 Zornitza Stark Publications for gene: NBEAL2 were set to
Bone Marrow Failure v0.272 NBEAL2 Zornitza Stark Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.58 GFI1 Zornitza Stark Marked gene: GFI1 as ready
Phagocyte Defects v0.58 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.58 GFI1 Zornitza Stark Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Phagocyte Defects v0.57 GFI1 Zornitza Stark Publications for gene: GFI1 were set to
Phagocyte Defects v0.56 GFI1 Zornitza Stark Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.55 GFI1 Zornitza Stark reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8043 GFI1 Zornitza Stark Marked gene: GFI1 as ready
Mendeliome v0.8043 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Mendeliome v0.8043 GFI1 Zornitza Stark Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Mendeliome v0.8042 GFI1 Zornitza Stark Publications for gene: GFI1 were set to
Mendeliome v0.8041 GFI1 Zornitza Stark Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8040 GFI1 Zornitza Stark reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.271 GFI1 Zornitza Stark Marked gene: GFI1 as ready
Bone Marrow Failure v0.271 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.271 GFI1 Zornitza Stark Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Bone Marrow Failure v0.270 GFI1 Zornitza Stark Publications for gene: GFI1 were set to
Bone Marrow Failure v0.269 GFI1 Zornitza Stark Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.268 GFI1 Zornitza Stark reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.129 PPP1R13L Zornitza Stark Marked gene: PPP1R13L as ready
Clefting disorders v0.129 PPP1R13L Zornitza Stark Gene: ppp1r13l has been classified as Green List (High Evidence).
Clefting disorders v0.129 PPP1R13L Zornitza Stark Classified gene: PPP1R13L as Green List (high evidence)
Clefting disorders v0.129 PPP1R13L Zornitza Stark Gene: ppp1r13l has been classified as Green List (High Evidence).
Clefting disorders v0.128 PPP1R13L Zornitza Stark gene: PPP1R13L was added
gene: PPP1R13L was added to Clefting disorders. Sources: Expert Review
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28864777
Phenotypes for gene: PPP1R13L were set to Dilated cardiomyopathy, onset in infancy; Cleft lip and palate
Review for gene: PPP1R13L was set to GREEN
Added comment: At least 6 unrelated families. NMD-predicted, missense and stop-loss (extension) variants have been reported in individuals with autosomal recessive PPP1R13L-related syndrome. Patients described with biallelic pathogenic variants in PPP1R13L all had severe infantile-onset dilated cardiomyopathy, with additional features including cleft lip and palate, wedge-shaped teeth, and sparse, dry, woolly hair described in several individuals. Death due to HF progression before 5yo reported in cases that didn't receive a heart transplant. Cognitive delay also reported in two unrelated individuals (PMID: 28069640, PMID: 32666529).
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3882 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Intellectual disability syndromic and non-syndromic v0.3882 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3882 SLC13A5 Zornitza Stark Phenotypes for gene: SLC13A5 were changed from to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392
Intellectual disability syndromic and non-syndromic v0.3881 SLC13A5 Zornitza Stark Publications for gene: SLC13A5 were set to
Intellectual disability syndromic and non-syndromic v0.3880 SLC13A5 Zornitza Stark Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3879 SLC13A5 Zornitza Stark reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905, MONDO:0014392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8040 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Mendeliome v0.8040 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Green List (High Evidence).
Mendeliome v0.8040 SLC13A5 Zornitza Stark Phenotypes for gene: SLC13A5 were changed from to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392
Mendeliome v0.8039 SLC13A5 Zornitza Stark Publications for gene: SLC13A5 were set to
Mendeliome v0.8038 SLC13A5 Zornitza Stark Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8037 SLC13A5 Zornitza Stark reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905, MONDO:0014392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1120 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Genetic Epilepsy v0.1120 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1120 SLC13A5 Zornitza Stark Publications for gene: SLC13A5 were set to
Genetic Epilepsy v0.1119 SLC13A5 Zornitza Stark Phenotypes for gene: SLC13A5 were changed from to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392
Genetic Epilepsy v0.1118 SLC13A5 Zornitza Stark Mode of inheritance for gene: SLC13A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.92 PPP1R13L Kristin Rigbye reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28069640, 32666529; Phenotypes: PPP1R13L-related syndrome, Dilated cardiomyopathy (severe infantile-onset); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 AMBN Belinda Chong reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24858907, 26502894; Phenotypes: Amelogenesis imperfecta, type IF MIM#616270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 GPR68 Elena Savva reviewed gene: GPR68: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27693231, 32279993; Phenotypes: Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1117 SLC13A5 Teresa Zhao reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 SLC13A5 Teresa Zhao reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24995870, 26384929; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 ROGDI Naomi Baker reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22424600, 29153277, 25565929; Phenotypes: Kohlschutter-Tonz syndrome MIM #226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 ACP4 Belinda Chong edited their review of gene: ACP4: Changed rating: GREEN
Amelogenesis imperfecta v0.1 FAM83H Elena Savva reviewed gene: FAM83H: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 19407157; Phenotypes: Amelogenesis imperfecta, type IIIA MIM#130900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amelogenesis imperfecta v0.1 ACP4 Belinda Chong reviewed gene: ACP4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 27843125, 33552707; Phenotypes: Amelogenesis imperfecta, type IJ MIM#617297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 FAM20C Elena Savva reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17924334, 25928877, 24026952; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 SLC10A7 Teresa Zhao reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30082715; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v0.1 FAM20A Elena Savva reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.268 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Bone Marrow Failure v0.268 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Mendeliome v0.8037 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Mendeliome v0.8037 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Mendeliome v0.8037 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Mendeliome v0.8036 GATA2 Zornitza Stark Publications for gene: GATA2 were set to
Mendeliome v0.8035 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8034 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21670465, 21242295, 21892158; Phenotypes: Immunodeficiency 21, MIM# 614172, GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982, Emberger syndrome, MIM# 614038, Deafness-lymphoedema-leukaemia syndrome MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.268 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Bone Marrow Failure v0.267 GATA2 Zornitza Stark Publications for gene: GATA2 were set to
Bone Marrow Failure v0.266 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.265 GATA2 Zornitza Stark edited their review of gene: GATA2: Changed phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540
Bone Marrow Failure v0.265 GATA2 Zornitza Stark changed review comment from: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.

Over 20 unrelated individuals reported.; to: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.

Over 20 unrelated individuals reported.
Bone Marrow Failure v0.265 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21670465, 21242295, 21892158; Phenotypes: Immunodeficiency 21, MIM# 614172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8034 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Mendeliome v0.8034 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Mendeliome v0.8034 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Mendeliome v0.8033 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8032 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.265 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Bone Marrow Failure v0.265 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.265 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Bone Marrow Failure v0.264 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v0.55 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Phagocyte Defects v0.55 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Phagocyte Defects v0.55 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Phagocyte Defects v0.54 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Classified gene: G6PC3 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.6 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Pulmonary Arterial Hypertension. Sources: Expert Review
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: G6PC3 were set to 19118303; 20799326; 25492228; 17318259; 20616219
Phenotypes for gene: G6PC3 were set to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Review for gene: G6PC3 was set to GREEN
Added comment: Over 20 unrelated families reported, mouse models. Dursun syndrome describes a subset of patients with pulmonary hypertension.
Sources: Expert Review
Phagocyte Defects v0.53 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.52 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark edited their review of gene: G6PC3: Changed phenotypes: Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Bone Marrow Failure v0.262 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Bone Marrow Failure v0.261 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.260 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.260 FANCG Zornitza Stark Marked gene: FANCG as ready
Bone Marrow Failure v0.260 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Bone Marrow Failure v0.260 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Bone Marrow Failure v0.259 FANCG Zornitza Stark Publications for gene: FANCG were set to
Bone Marrow Failure v0.258 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.257 FANCF Zornitza Stark Marked gene: FANCF as ready
Bone Marrow Failure v0.257 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Bone Marrow Failure v0.257 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Bone Marrow Failure v0.256 FANCF Zornitza Stark Publications for gene: FANCF were set to
Bone Marrow Failure v0.255 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.252 FANCB Zornitza Stark Marked gene: FANCB as ready
Bone Marrow Failure v0.252 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Bone Marrow Failure v0.252 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514
Bone Marrow Failure v0.251 FANCB Zornitza Stark Publications for gene: FANCB were set to
Bone Marrow Failure v0.250 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.249 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8032 ELANE Zornitza Stark Marked gene: ELANE as ready
Mendeliome v0.8032 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Mendeliome v0.8032 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
Mendeliome v0.8031 ELANE Zornitza Stark Publications for gene: ELANE were set to
Mendeliome v0.8030 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8029 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: 19036076; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.249 ELANE Zornitza Stark Marked gene: ELANE as ready
Bone Marrow Failure v0.249 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Bone Marrow Failure v0.249 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
Bone Marrow Failure v0.248 ELANE Zornitza Stark Publications for gene: ELANE were set to
Bone Marrow Failure v0.247 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.246 ELANE Zornitza Stark edited their review of gene: ELANE: Changed publications: 19036076
Bone Marrow Failure v0.246 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.246 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Bone Marrow Failure v0.246 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Mendeliome v0.8029 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Mendeliome v0.8029 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Mendeliome v0.8029 EFL1 Zornitza Stark Phenotypes for gene: EFL1 were changed from to Shwachman-Diamond syndrome 2, MIM# 617941
Mendeliome v0.8028 EFL1 Zornitza Stark Publications for gene: EFL1 were set to
Mendeliome v0.8027 EFL1 Zornitza Stark Mode of inheritance for gene: EFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8026 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.246 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Bone Marrow Failure v0.246 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.246 EFL1 Zornitza Stark Phenotypes for gene: EFL1 were changed from to Shwachman-Diamond syndrome 2, MIM# 617941
Bone Marrow Failure v0.245 EFL1 Zornitza Stark Publications for gene: EFL1 were set to
Bone Marrow Failure v0.244 EFL1 Zornitza Stark Mode of inheritance for gene: EFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.243 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8026 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Mendeliome v0.8026 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Mendeliome v0.8026 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome, MIM# 193670
Mendeliome v0.8025 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Mendeliome v0.8024 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8023 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.343 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Regression v0.343 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.243 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Bone Marrow Failure v0.243 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.243 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome, MIM# 193670
Bone Marrow Failure v0.242 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Bone Marrow Failure v0.241 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.240 CXCR4 Zornitza Stark Classified gene: CXCR4 as Amber List (moderate evidence)
Bone Marrow Failure v0.240 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.239 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.343 CTC1 Zornitza Stark Classified gene: CTC1 as Green List (high evidence)
Regression v0.343 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Regression v0.342 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Review for gene: CTC1 was set to GREEN
Added comment: Progressive cognitive decline.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia. More than 30 unrelated patients reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3879 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Intellectual disability syndromic and non-syndromic v0.3879 CTC1 Zornitza Stark Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3879 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Intellectual disability syndromic and non-syndromic v0.3878 CTC1 Zornitza Stark Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3877 CTC1 Zornitza Stark Classified gene: CTC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3877 CTC1 Zornitza Stark Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3876 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.239 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Mendeliome v0.8023 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Mendeliome v0.8023 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Mendeliome v0.8023 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Mendeliome v0.8022 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Bone Marrow Failure v0.238 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Mendeliome v0.8021 CTC1 Zornitza Stark Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.238 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Mendeliome v0.8020 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.237 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Bone Marrow Failure v0.236 CTC1 Zornitza Stark Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.235 CTC1 Zornitza Stark edited their review of gene: CTC1: Changed phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Bone Marrow Failure v0.235 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Bone Marrow Failure v0.234 BRIP1 Zornitza Stark Publications for gene: BRIP1 were set to
Bone Marrow Failure v0.233 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.232 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724
Bone Marrow Failure v0.231 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.230 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.233 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Additional findings_Paediatric v0.233 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8020 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Mendeliome v0.8020 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Mendeliome v0.8020 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from to Thrombocytopaenia 2, MIM# 188000
Mendeliome v0.8019 ANKRD26 Zornitza Stark Publications for gene: ANKRD26 were set to
Mendeliome v0.8018 ANKRD26 Zornitza Stark Mode of inheritance for gene: ANKRD26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8017 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Mendeliome v0.8017 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from to Thrombocytopaenia 2, MIM# 188000
Bone Marrow Failure v0.229 ANKRD26 Zornitza Stark Publications for gene: ANKRD26 were set to
Bone Marrow Failure v0.228 ANKRD26 Zornitza Stark Mode of inheritance for gene: ANKRD26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.2 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2, MIM# 188000 to Thrombocytopaenia 2, MIM# 188000
Bone Marrow Failure v0.227 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.1 ANKRD26 Zornitza Stark edited their review of gene: ANKRD26: Changed phenotypes: Thrombocytopaenia 2, MIM# 188000
Mendeliome v0.8017 AK2 Zornitza Stark Marked gene: AK2 as ready
Mendeliome v0.8017 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Mendeliome v0.8017 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis, MIM# 267500
Mendeliome v0.8016 AK2 Zornitza Stark Publications for gene: AK2 were set to
Mendeliome v0.8015 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8014 AK2 Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416; Phenotypes: Reticular dysgenesis, MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.226 AK2 Zornitza Stark Marked gene: AK2 as ready
Bone Marrow Failure v0.226 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.226 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis, MIM# 267500
Bone Marrow Failure v0.225 AK2 Zornitza Stark Publications for gene: AK2 were set to
Bone Marrow Failure v0.224 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal