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Fetal anomalies v0.1767 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Fetal anomalies v0.1767 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1767 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from LYMPHEDEMA-DISTICHIASIS SYNDROME; HEREDITARY LYMPHEDEMA II to Lymphoedema-distichiasis syndrome, MIM# 153400
Fetal anomalies v0.1766 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Fetal anomalies v0.1765 FOXC2 Zornitza Stark changed review comment from: Single individual reported with CDH, some supportive functional data.
Sources: Literature; to: Lymphoedema-distichiasis is an autosomal dominant disorder that classically presents as lymphoedema of the limbs and double rows of eyelashes (distichiasis). Other features that may present antenatally include cardiac defects, cleft palate, spinal extradural cysts, and CDH. Well established gene-disease association, multiple families reported.
Sources: Literature
Fetal anomalies v0.1765 FOXC2 Zornitza Stark edited their review of gene: FOXC2: Changed rating: GREEN; Changed publications: 33461977, 27663689, 11078474, 11694548, 11371511; Changed phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400
Fetal anomalies v0.1765 GZF1 Ain Roesley reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33009817, 28475863; Phenotypes: Joint laxity, short stature, and myopia, MIM# 617662, Larsen-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 GSC Ain Roesley reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10452 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Mendeliome v0.10452 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Mendeliome v0.10452 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM# 153400
Mendeliome v0.10451 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Mendeliome v0.10450 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10449 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11078474, 11694548, 11371511; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10449 GRM1 Ain Roesley reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia 44 MIM#617691, Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 GRM1 Ain Roesley reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: 22901947, 26308914; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Fetal anomalies v0.1765 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1765 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from AXENFELD-RIEGER SYNDROME TYPE 3; IRIDOGONIODYSGENESIS ANOMALY; PETERS ANOMALY to Axenfeld-Rieger syndrome, type 3, MIM# 602482
Fetal anomalies v0.1764 FOXC1 Zornitza Stark Publications for gene: FOXC1 were set to 32720677
Fetal anomalies v0.1763 FOXC1 Zornitza Stark Mode of inheritance for gene: FOXC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1762 FOXC1 Zornitza Stark edited their review of gene: FOXC1: Added comment: ARS can present antenatally with congenital heart disease and umbilical defects.; Changed rating: GREEN; Changed publications: 30255586; Changed phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1762 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813, 25152456; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1762 FOXC1 Zornitza Stark Deleted their comment
Fetal anomalies v0.1762 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Fetal anomalies v0.1762 FOLR1 Zornitza Stark Gene: folr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1762 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley changed review comment from: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. Originally described in PMID: 19415813; to: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. 1x originally described in PMID: 19415813
Fetal anomalies v0.1761 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Fetal anomalies v0.1760 FOLR1 Zornitza Stark Classified gene: FOLR1 as Red List (low evidence)
Fetal anomalies v0.1760 FOLR1 Zornitza Stark Gene: folr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1759 FOLR1 Zornitza Stark changed review comment from: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.; to: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Not pertinent to fetal panel.
Fetal anomalies v0.1759 FOLR1 Zornitza Stark edited their review of gene: FOLR1: Changed rating: RED
Fetal anomalies v0.1759 GRHL2 Ain Roesley Deleted their review
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley edited their review of gene: GRHL2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: ; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.1759 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 25152456, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10449 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1759 SLC25A38 Seb Lunke Marked gene: SLC25A38 as ready
Fetal anomalies v0.1759 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1759 SLC25A38 Seb Lunke Phenotypes for gene: SLC25A38 were changed from ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950
Fetal anomalies v0.1758 SLC25A38 Seb Lunke Publications for gene: SLC25A38 were set to
Fetal anomalies v0.1757 SLC25A38 Seb Lunke Classified gene: SLC25A38 as Red List (low evidence)
Fetal anomalies v0.1757 SLC25A38 Seb Lunke Added comment: Comment on list classification: Red for fetal anomalies panel as no conclusive detectable fetal presentation
Fetal anomalies v0.1757 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1756 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: RED; Mode of pathogenicity: None; Publications: 19412178, 31338833; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10449 SLC17A5 Seb Lunke Publications for gene: SLC17A5 were set to 10581036; 10947946
Mendeliome v0.10448 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1756 SLC17A5 Seb Lunke Marked gene: SLC17A5 as ready
Fetal anomalies v0.1756 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1756 SLC17A5 Seb Lunke Phenotypes for gene: SLC17A5 were changed from SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER to Sialic acid storage disorder, infantile, MIM#269920; MONDO:0010027
Fetal anomalies v0.1755 SLC17A5 Seb Lunke Publications for gene: SLC17A5 were set to
Fetal anomalies v0.1754 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140, 10581036, 10947946; Phenotypes: Sialic acid storage disorder, infantile, MIM#269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1754 GREB1L Ain Roesley reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100091, 29955957, 32585897; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.147 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1754 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10448 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1754 SLC12A6 Seb Lunke Marked gene: SLC12A6 as ready
Fetal anomalies v0.1754 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1754 SLC12A6 Seb Lunke Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Fetal anomalies v0.1753 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 GPKOW Ain Roesley reviewed gene: GPKOW: Rating: RED; Mode of pathogenicity: None; Publications: 28612833; Phenotypes: male-lethal microcephaly with intrauterine growth restriction; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10448 GPKOW Ain Roesley gene: GPKOW was added
gene: GPKOW was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPKOW were set to 28612833
Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
Penetrance for gene: GPKOW were set to unknown
Review for gene: GPKOW was set to RED
gene: GPKOW was marked as current diagnostic
Added comment: - multi-generational family with 5 deceased males (only 1 genotyped)
- X-exome sequencing identified NM_015698.4:c.331+5G>A, which segregated through the obligate carriers
- RNA from female carriers confirmed splicing defects, which leads to NMD

no additional reports since
Sources: Literature
Fetal anomalies v0.1753 GPC6 Ain Roesley reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 GNA11 Ain Roesley reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10448 GNA11 Ain Roesley reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1753 Zornitza Stark removed gene:HPS1 from the panel
Fetal anomalies v0.1752 Zornitza Stark removed gene:HPRT1 from the panel
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Marked gene: HOXC13 as ready
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Gene: hoxc13 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Phenotypes for gene: HOXC13 were changed from Ectodermal dysplasia 9 to Ectodermal dysplasia 9, hair/nail type MIM#614931
Ectodermal Dysplasia v0.62 HOXC13 Zornitza Stark Publications for gene: HOXC13 were set to
Ectodermal Dysplasia v0.61 HOXC13 Zornitza Stark edited their review of gene: HOXC13: Added comment: Four unrelated families reported.; Changed publications: 23063621, 23315978, 29278420
Ectodermal Dysplasia v0.61 HOXC13 Zornitza Stark reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 9, hair/nail type MIM#614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10448 HOXC13 Zornitza Stark Marked gene: HOXC13 as ready
Mendeliome v0.10448 HOXC13 Zornitza Stark Gene: hoxc13 has been classified as Green List (High Evidence).
Mendeliome v0.10448 HOXC13 Zornitza Stark Phenotypes for gene: HOXC13 were changed from to Ectodermal dysplasia 9, hair/nail type MIM#614931
Mendeliome v0.10447 HOXC13 Zornitza Stark Publications for gene: HOXC13 were set to
Mendeliome v0.10446 HOXC13 Zornitza Stark Mode of inheritance for gene: HOXC13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1751 Zornitza Stark removed gene:HOXC13 from the panel
Fetal anomalies v0.1750 Zornitza Stark removed gene:HLCS from the panel
Fetal anomalies v0.1749 Zornitza Stark removed gene:HINT1 from the panel
Fetal anomalies v0.1748 Zornitza Stark removed gene:HAX1 from the panel
Fetal anomalies v0.1747 Zornitza Stark removed gene:GRM6 from the panel
Fetal anomalies v0.1746 Zornitza Stark removed gene:GJB2 from the panel
Fetal anomalies v0.1745 Zornitza Stark removed gene:GCH1 from the panel
Mendeliome v0.10445 FZD6 Zornitza Stark Marked gene: FZD6 as ready
Mendeliome v0.10445 FZD6 Zornitza Stark Gene: fzd6 has been classified as Green List (High Evidence).
Mendeliome v0.10445 FZD6 Zornitza Stark Phenotypes for gene: FZD6 were changed from to Nail disorder, nonsyndromic congenital, 1, MIM# 161050
Mendeliome v0.10444 FZD6 Zornitza Stark Publications for gene: FZD6 were set to
Mendeliome v0.10443 FZD6 Zornitza Stark Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10442 FZD6 Zornitza Stark reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665003, 23374899; Phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM# 161050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1744 Zornitza Stark removed gene:FZD6 from the panel
Fetal anomalies v0.1743 Zornitza Stark removed gene:FTCD from the panel
Fetal anomalies v0.1742 Zornitza Stark removed gene:FOXN1 from the panel
Fetal anomalies v0.1741 Zornitza Stark removed gene:FHL1 from the panel
Fetal anomalies v0.1740 Zornitza Stark removed gene:FGD4 from the panel
Fetal anomalies v0.1739 Zornitza Stark removed gene:FAM161A from the panel
Mendeliome v0.10442 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1738 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Fetal anomalies v0.1738 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1738 DHTKD1 Zornitza Stark Phenotypes for gene: DHTKD1 were changed from 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism
Fetal anomalies v0.1737 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to
Fetal anomalies v0.1736 DHTKD1 Zornitza Stark reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria MIM#204750, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1736 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.110 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.102 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Mendeliome v0.10442 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Fetal anomalies v0.1736 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Clefting disorders v0.165 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Clefting disorders v0.165 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Clefting disorders v0.165 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from BOR2; BRANCHIOOTORENAL SYNDROME 2 to Branchiootorenal syndrome 2, MIM# 610896
Clefting disorders v0.164 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Clefting disorders v0.163 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.162 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Clefting disorders v0.162 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Clefting disorders v0.161 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10442 SIX5 Zornitza Stark Publications for gene: SIX5 were set to 17357085; 33624842; 20301554; 24730701; 22447252
Mendeliome v0.10441 SIX5 Zornitza Stark Classified gene: SIX5 as Amber List (moderate evidence)
Mendeliome v0.10441 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10440 SIX5 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.
Mendeliome v0.10440 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: AMBER; Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.102 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.102 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.102 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.102 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.101 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.100 SIX5 Zornitza Stark Classified gene: SIX5 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.100 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.99 SIX5 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.99 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.99 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: AMBER
Fetal anomalies v0.1736 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Fetal anomalies v0.1735 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Fetal anomalies v0.1735 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1734 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: RED
Fetal anomalies v0.1734 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed phenotypes: Branchiootorenal syndrome 2, MIM#610896
Fetal anomalies v0.1734 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.99 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10440 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Mendeliome v0.10440 SIX5 Zornitza Stark Gene: six5 has been classified as Green List (High Evidence).
Mendeliome v0.10440 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, MIM# 610896 to Branchiootorenal syndrome 2, MIM# 610896
Mendeliome v0.10439 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896
Mendeliome v0.10438 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Mendeliome v0.10437 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10436 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1734 Zornitza Stark removed gene:FMR1 from the panel
Fetal anomalies v0.1733 Zornitza Stark removed gene:FBP1 from the panel
Fetal anomalies v0.1732 Zornitza Stark removed gene:FAM20A from the panel
Fetal anomalies v0.1731 Zornitza Stark removed gene:EDAR from the panel
Fetal anomalies v0.1730 Zornitza Stark removed gene:EDA from the panel
Fetal anomalies v0.1729 Zornitza Stark removed gene:DSPP from the panel
Fetal anomalies v0.1728 Zornitza Stark removed gene:DOCK8 from the panel
Fetal anomalies v0.1727 Zornitza Stark removed gene:CRX from the panel
Fetal anomalies v0.1726 Zornitza Stark removed gene:CRB1 from the panel
Fetal anomalies v0.1725 DLX5 Belinda Chong reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1725 DLX5 Belinda Chong Deleted their review
Fetal anomalies v0.1725 DLX5 Belinda Chong reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10436 SKI Seb Lunke Marked gene: SKI as ready
Mendeliome v0.10436 SKI Seb Lunke Gene: ski has been classified as Green List (High Evidence).
Mendeliome v0.10436 SKI Seb Lunke Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM#182212
Mendeliome v0.10435 SKI Seb Lunke Publications for gene: SKI were set to
Mendeliome v0.10434 SKI Seb Lunke Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10433 SKI Seb Lunke changed review comment from: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.; to: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established as only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Mendeliome v0.10433 SKI Seb Lunke Deleted their comment
Fetal anomalies v0.1725 SKI Seb Lunke Marked gene: SKI as ready
Fetal anomalies v0.1725 SKI Seb Lunke Gene: ski has been classified as Green List (High Evidence).
Fetal anomalies v0.1725 SKI Seb Lunke Publications for gene: SKI were set to 15884042; 23023332
Mendeliome v0.10433 SKI Seb Lunke commented on gene: SKI: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Fetal anomalies v0.1724 SKI Seb Lunke Added comment: Comment on mode of pathogenicity: LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Fetal anomalies v0.1724 SKI Seb Lunke Mode of pathogenicity for gene: SKI was changed from to None
Fetal anomalies v0.1723 DHTKD1 Belinda Chong reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413, 27604308, 23141293, 25860818; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025, Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10433 SKI Seb Lunke reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1723 SKI Seb Lunke Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM#182212
Fetal anomalies v0.1722 SKI Seb Lunke Publications for gene: SKI were set to
Fetal anomalies v0.1721 SKI Seb Lunke Mode of inheritance for gene: SKI was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1720 SKI Seb Lunke reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1720 SIX5 Seb Lunke Marked gene: SIX5 as ready
Fetal anomalies v0.1720 SIX5 Seb Lunke Gene: six5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1720 SIX5 Seb Lunke Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, MIM#610896
Fetal anomalies v0.1719 SIX5 Seb Lunke reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootorenal syndrome 2, MIM#610896; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10433 KEL Zornitza Stark Marked gene: KEL as ready
Mendeliome v0.10433 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Mendeliome v0.10433 KEL Zornitza Stark Phenotypes for gene: KEL were changed from to [Blood group, Kell] 110900
Regression v0.391 COX15 Zornitza Stark Marked gene: COX15 as ready
Regression v0.391 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Regression v0.391 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mendeliome v0.10432 KEL Zornitza Stark Classified gene: KEL as Red List (low evidence)
Mendeliome v0.10432 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Regression v0.390 COX15 Zornitza Stark Publications for gene: COX15 were set to
Regression v0.389 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4401 COX15 Zornitza Stark Publications for gene: COX15 were set to
Regression v0.388 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4401 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4400 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4399 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.354 COX15 Zornitza Stark Marked gene: COX15 as ready
Callosome v0.354 COX15 Zornitza Stark Gene: cox15 has been classified as Red List (Low Evidence).
Callosome v0.354 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Callosome v0.353 COX15 Zornitza Stark Publications for gene: COX15 were set to
Callosome v0.352 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.351 COX15 Zornitza Stark Classified gene: COX15 as Red List (low evidence)
Callosome v0.351 COX15 Zornitza Stark Gene: cox15 has been classified as Red List (Low Evidence).
Callosome v0.350 COX15 Zornitza Stark reviewed gene: COX15: Rating: RED; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 COX15 Zornitza Stark Marked gene: COX15 as ready
Mitochondrial disease v0.681 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mitochondrial disease v0.681 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mitochondrial disease v0.680 COX15 Zornitza Stark Publications for gene: COX15 were set to
Mitochondrial disease v0.679 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.678 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1719 COX15 Zornitza Stark Marked gene: COX15 as ready
Fetal anomalies v0.1719 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1719 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Fetal anomalies v0.1718 COX15 Zornitza Stark Publications for gene: COX15 were set to
Fetal anomalies v0.1717 COX15 Zornitza Stark Classified gene: COX15 as Amber List (moderate evidence)
Fetal anomalies v0.1717 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Marked gene: COX15 as ready
Mendeliome v0.10431 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mendeliome v0.10430 COX15 Zornitza Stark Publications for gene: COX15 were set to
Fetal anomalies v0.1716 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 33746038, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10429 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10428 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1716 COX10 Zornitza Stark Marked gene: COX10 as ready
Fetal anomalies v0.1716 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1716 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Fetal anomalies v0.1715 COX10 Zornitza Stark Publications for gene: COX10 were set to
Fetal anomalies v0.1714 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Fetal anomalies v0.1714 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1713 COX10 Zornitza Stark changed review comment from: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.; to: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.

At least one individual reported with severe HCM in neonatal period.
Fetal anomalies v0.1713 COX10 Zornitza Stark edited their review of gene: COX10: Changed rating: AMBER
Fetal anomalies v0.1713 Zornitza Stark removed gene:COQ8A from the panel
Fetal anomalies v0.1712 Zornitza Stark removed gene:COQ2 from the panel
Fetal anomalies v0.1711 COQ2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1711 Zornitza Stark removed gene:COMP from the panel
Fetal anomalies v0.1710 Zornitza Stark removed gene:COL9A3 from the panel
Fetal anomalies v0.1709 Zornitza Stark removed gene:COL5A2 from the panel
Fetal anomalies v0.1708 Zornitza Stark removed gene:COL5A1 from the panel
Fetal anomalies v0.1707 Zornitza Stark removed gene:COL4A4 from the panel
Fetal anomalies v0.1706 Zornitza Stark removed gene:COL4A3 from the panel
Fetal anomalies v0.1705 Zornitza Stark removed gene:COL25A1 from the panel
Fetal anomalies v0.1704 Zornitza Stark removed gene:CHRNA4 from the panel
Fetal anomalies v0.1703 CLTC Zornitza Stark Marked gene: CLTC as ready
Fetal anomalies v0.1703 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Fetal anomalies v0.1703 CLTC Zornitza Stark Phenotypes for gene: CLTC were changed from Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia to Mental retardation, autosomal dominant 56, MIM# 617854
Fetal anomalies v0.1702 CLTC Zornitza Stark Publications for gene: CLTC were set to 33743358
Fetal anomalies v0.1701 CLTC Zornitza Stark Classified gene: CLTC as Green List (high evidence)
Fetal anomalies v0.1701 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Fetal anomalies v0.1700 CLTC Zornitza Stark edited their review of gene: CLTC: Added comment: PMID 34230591: review of previously reported cases and report of 3 new cases, including one with prenatally ascertained brain and renal abnormalities.; Changed rating: GREEN; Changed publications: 29100083, 26822784, 34230591
Fetal anomalies v0.1700 Zornitza Stark removed gene:CHRNB2 from the panel
Fetal anomalies v0.1699 Zornitza Stark removed gene:CLN8 from the panel
Fetal anomalies v0.1698 Zornitza Stark removed gene:CLN6 from the panel
Fetal anomalies v0.1697 Zornitza Stark removed gene:CLN5 from the panel
Fetal anomalies v0.1696 Zornitza Stark removed gene:CLN3 from the panel
Fetal anomalies v0.1695 Zornitza Stark removed gene:CLDN19 from the panel
Fetal anomalies v0.1694 Zornitza Stark removed gene:CISD2 from the panel
Fetal anomalies v0.1693 CISD2 Zornitza Stark changed review comment from: Neurodegenerative disorder with hearing and visual impairment, but intellectual disability is not a feature.; to: Neurodegenerative disorder with hearing and visual impairment.
Fetal anomalies v0.1693 Zornitza Stark removed gene:CIB2 from the panel
Fetal anomalies v0.1692 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Fetal anomalies v0.1692 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1692 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Fetal anomalies v0.1691 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Fetal anomalies v0.1690 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1689 CHRNA4 Zornitza Stark changed review comment from: ID only reported in one family with this condition.; to: Post-natal onset.
Fetal anomalies v0.1689 CHRDL1 Zornitza Stark Marked gene: CHRDL1 as ready
Fetal anomalies v0.1689 CHRDL1 Zornitza Stark Gene: chrdl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1689 CHRDL1 Zornitza Stark Phenotypes for gene: CHRDL1 were changed from MEGALOCORNEA, X-LINKED to Megalocornea 1, X-linked, MIM# 309300
Fetal anomalies v0.1688 CHRDL1 Zornitza Stark reviewed gene: CHRDL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalocornea 1, X-linked, MIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Catecholaminergic Polymorphic Ventricular Tachycardia v0.31 TECRL Zornitza Stark Publications for gene: TECRL were set to 17666061; 27861123; 30790670
Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 TECRL Zornitza Stark reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33367594; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10428 TECRL Zornitza Stark Marked gene: TECRL as ready
Mendeliome v0.10428 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Mendeliome v0.10428 TECRL Zornitza Stark Classified gene: TECRL as Green List (high evidence)
Mendeliome v0.10428 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Mendeliome v0.10427 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 17666061; 27861123; 30790670; 33367594
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: DEFINITIVE by ClinGen
Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence.
- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)
- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)
- 30790670 reported in a single family with one child with features of CPVT
-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594
Sources: Expert Review
Mendeliome v0.10426 KEL Ain Roesley reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.1688 CHD2 Zornitza Stark changed review comment from: Post-natal onset.; to: Post-natal onset for DDE.

Association with ARVC rated LIMITED by ClinGen.
Fetal anomalies v0.1688 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Fetal anomalies v0.1688 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1688 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 94, MIM# 615369
Fetal anomalies v0.1687 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1686 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1686 CCNO Zornitza Stark Marked gene: CCNO as ready
Fetal anomalies v0.1686 CCNO Zornitza Stark Gene: ccno has been classified as Red List (Low Evidence).
Fetal anomalies v0.1686 CCNO Zornitza Stark Phenotypes for gene: CCNO were changed from CILIARY DYSKINESIA, PRIMARY, 29 to Ciliary dyskinesia, primary, 29 615872
Fetal anomalies v0.1685 CCNO Zornitza Stark Publications for gene: CCNO were set to 30166424
Heterotaxy v1.13 CCDC65 Zornitza Stark Classified gene: CCDC65 as Red List (low evidence)
Heterotaxy v1.13 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Red List (Low Evidence).
Heterotaxy v1.12 CCDC65 Zornitza Stark changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.

Situs inversus not reported.
Heterotaxy v1.12 CCDC65 Zornitza Stark edited their review of gene: CCDC65: Changed rating: RED
Fetal anomalies v0.1684 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
Fetal anomalies v0.1684 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1684 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 27, MIM# 615504
Fetal anomalies v0.1683 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to 30166424
Fetal anomalies v0.1682 CCDC65 Zornitza Stark changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.

Situs inversus not reported.
Fetal anomalies v0.1682 CCDC65 Zornitza Stark edited their review of gene: CCDC65: Changed rating: RED
Mendeliome v0.10426 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Mendeliome v0.10426 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Mendeliome v0.10426 CCDC115 Zornitza Stark Phenotypes for gene: CCDC115 were changed from to Congenital disorder of glycosylation, type IIo (MIM# 616828)
Mendeliome v0.10425 CCDC115 Zornitza Stark Publications for gene: CCDC115 were set to
Mendeliome v0.10424 CCDC115 Zornitza Stark Mode of inheritance for gene: CCDC115 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10423 CCDC115 Zornitza Stark reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1682 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Fetal anomalies v0.1682 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1682 CCDC115 Zornitza Stark Phenotypes for gene: CCDC115 were changed from Disorder of Golgi homeostasis to Congenital disorder of glycosylation, type IIo, MIM# 616828
Fetal anomalies v0.1681 CCDC115 Zornitza Stark Publications for gene: CCDC115 were set to
Fetal anomalies v0.1680 CCDC115 Zornitza Stark reviewed gene: CCDC115: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIo, MIM# 616828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1680 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Fetal anomalies v0.1680 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1680 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Mental retardation, autosomal recessive 3, MIM# 608443
Fetal anomalies v0.1679 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Fetal anomalies v0.1678 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1678 CBS Zornitza Stark Marked gene: CBS as ready
Fetal anomalies v0.1678 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Fetal anomalies v0.1678 CBS Zornitza Stark Phenotypes for gene: CBS were changed from CYSTATHIONINE BETA-SYNTHASE DEFICIENCY to Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Fetal anomalies v0.1677 CBS Zornitza Stark reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1677 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Fetal anomalies v0.1677 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1677 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 613327 to Lipodystrophy, congenital generalized, type 4 , MIM# 613327
Fetal anomalies v0.1676 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1676 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Fetal anomalies v0.1676 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Fetal anomalies v0.1676 CAD Zornitza Stark Marked gene: CAD as ready
Fetal anomalies v0.1676 CAD Zornitza Stark Gene: cad has been classified as Red List (Low Evidence).
Fetal anomalies v0.1676 CAD Zornitza Stark Phenotypes for gene: CAD were changed from Uridine-responsive epileptic encephalopathy to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457
Fetal anomalies v0.1675 CAD Zornitza Stark Publications for gene: CAD were set to
Fetal anomalies v0.1674 CAD Zornitza Stark changed review comment from: Four unrelated families (two with same variant and Roma background, likely founder).
Sources: Expert list; to: Four unrelated families (two with same variant and Roma background, likely founder). Onset in infancy.
Sources: Expert list
Fetal anomalies v0.1674 CAD Zornitza Stark edited their review of gene: CAD: Changed rating: RED
Fetal anomalies v0.1674 Zornitza Stark removed gene:C4orf26 from the panel
Fetal anomalies v0.1673 Zornitza Stark removed gene:C2orf71 from the panel
Skeletal dysplasia v0.147 Zornitza Stark removed gene:C2orf71 from the panel
Mendeliome v0.10423 C2orf71 Zornitza Stark Marked gene: C2orf71 as ready
Mendeliome v0.10423 C2orf71 Zornitza Stark Gene: c2orf71 has been classified as Green List (High Evidence).
Mendeliome v0.10423 C2orf71 Zornitza Stark Phenotypes for gene: C2orf71 were changed from to Retinitis pigmentosa 54, MIM# 613428
Mendeliome v0.10422 C2orf71 Zornitza Stark Publications for gene: C2orf71 were set to
Mendeliome v0.10421 C2orf71 Zornitza Stark Mode of inheritance for gene: C2orf71 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10420 C2orf71 Zornitza Stark reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: 20398886, 20398884, 24780881, 31819343, 29946172, 28763557; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1672 C2orf71 Zornitza Stark Marked gene: C2orf71 as ready
Fetal anomalies v0.1672 C2orf71 Zornitza Stark Gene: c2orf71 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1672 C2orf71 Zornitza Stark Phenotypes for gene: C2orf71 were changed from RETINITIS PIGMENTOSA 54 to Retinitis pigmentosa 54, MIM# 613428
Fetal anomalies v0.1671 C2orf71 Zornitza Stark edited their review of gene: C2orf71: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1671 C2orf71 Zornitza Stark reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420
Mendeliome v0.10419 SH3PXD2B Zornitza Stark Publications for gene: SH3PXD2B were set to
Mendeliome v0.10418 SH3PXD2B Zornitza Stark Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10417 SH3PXD2B Zornitza Stark reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1671 SETBP1 Zornitza Stark commented on gene: SETBP1: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.

LoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554. This disorder typically presents post-natally.
Mendeliome v0.10417 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Mendeliome v0.10417 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Mendeliome v0.10417 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078
Mendeliome v0.10416 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Mendeliome v0.10415 SETBP1 Zornitza Stark changed review comment from: GoF variants cause Schinzel-Giedion syndrome, whereas LoF variants cause SETBP1-haploinsufficiency syndrome, over 40 individuals reviewed in PMID 34807554.; to: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.

LoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554.
Mendeliome v0.10415 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10414 SETBP1 Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20436468, 25217958, 34807554; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150, Mental retardation, autosomal dominant 29, MIM# 616078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1671 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150 to Schinzel-Giedion midface retraction syndrome, MIM# 269150
Fetal anomalies v0.1670 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1669 SETBP1 Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1669 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Fetal anomalies v0.1668 SCO2 Zornitza Stark Publications for gene: SCO2 were set to 15210538; 18924171
Fetal anomalies v0.1667 SCO2 Zornitza Stark Classified gene: SCO2 as Green List (high evidence)
Fetal anomalies v0.1667 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1666 SCO2 Zornitza Stark changed review comment from: Typically manifests post-natally though rare fetal presentations reported, PMID 15210538.; to: Severe neonatal presentations, and at least two reports of fetal presentations.
Fetal anomalies v0.1666 SCO2 Zornitza Stark edited their review of gene: SCO2: Changed publications: 15210538, 18924171, 22231385
Fetal anomalies v0.1666 SCO2 Zornitza Stark edited their review of gene: SCO2: Changed rating: GREEN; Changed publications: 15210538, 18924171
Fetal anomalies v0.1666 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15210538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10414 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Mendeliome v0.10414 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Mendeliome v0.10414 SCN4A Zornitza Stark Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300
Mendeliome v0.10413 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Mendeliome v0.10412 SCN4A Zornitza Stark Mode of inheritance for gene: SCN4A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34671263; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390, Paramyotonia congenita , MIM#168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 ING1 Zornitza Stark Phenotypes for gene: ING1 were changed from to Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark edited their review of gene: ING1: Changed phenotypes: Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark reviewed gene: ING1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Marked gene: TRAP1 as ready
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Classified gene: TRAP1 as Green List (high evidence)
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1665 TRAP1 Zornitza Stark reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10410 TRAP1 Zornitza Stark Marked gene: TRAP1 as ready
Mendeliome v0.10410 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Mendeliome v0.10410 TRAP1 Zornitza Stark Phenotypes for gene: TRAP1 were changed from to CAKUT; VACTERL
Mendeliome v0.10409 TRAP1 Zornitza Stark Publications for gene: TRAP1 were set to
Mendeliome v0.10408 TRAP1 Zornitza Stark Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10407 TRAP1 Zornitza Stark reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1665 SH3PXD2B Seb Lunke Marked gene: SH3PXD2B as ready
Fetal anomalies v0.1665 SH3PXD2B Seb Lunke Gene: sh3pxd2b has been classified as Green List (High Evidence).
Fetal anomalies v0.1665 SH3PXD2B Seb Lunke Phenotypes for gene: SH3PXD2B were changed from FRANK-TER HAAR SYNDROME to Frank-ter Haar syndrome, MIM#249420
Fetal anomalies v0.1664 SH3PXD2B Seb Lunke Publications for gene: SH3PXD2B were set to
Fetal anomalies v0.1663 SH3PXD2B Seb Lunke reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523657, 24105366; Phenotypes: Frank-ter Haar syndrome, MIM#249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1663 SETBP1 Seb Lunke Marked gene: SETBP1 as ready
Fetal anomalies v0.1663 SETBP1 Seb Lunke Added comment: Comment when marking as ready: Well established gene disease association with facial and skeletal abnormalities detectable in utero.
Fetal anomalies v0.1663 SETBP1 Seb Lunke Gene: setbp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1663 SETBP1 Seb Lunke Publications for gene: SETBP1 were set to
Fetal anomalies v0.1662 SETBP1 Seb Lunke Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150
Fetal anomalies v0.1661 SCO2 Seb Lunke Marked gene: SCO2 as ready
Fetal anomalies v0.1661 SCO2 Seb Lunke Gene: sco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1661 SCO2 Seb Lunke Phenotypes for gene: SCO2 were changed from FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.1660 SCO2 Seb Lunke Classified gene: SCO2 as Amber List (moderate evidence)
Fetal anomalies v0.1660 SCO2 Seb Lunke Added comment: Comment on list classification: Generally severe, rapidly progressive hypertrophic cardiomyopathy that presents in the neonatal period, early spontaneous abortions and fetal wastage described in one family.
Fetal anomalies v0.1660 SCO2 Seb Lunke Gene: sco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1659 SCO2 Seb Lunke Publications for gene: SCO2 were set to 15210538; 18924171
Fetal anomalies v0.1658 SCN4A Seb Lunke Marked gene: SCN4A as ready
Fetal anomalies v0.1658 SCN4A Seb Lunke Gene: scn4a has been classified as Green List (High Evidence).
Fetal anomalies v0.1658 SCN4A Seb Lunke Phenotypes for gene: SCN4A were changed from HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS to Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198
Fetal anomalies v0.1657 SCN4A Seb Lunke Publications for gene: SCN4A were set to
Fetal anomalies v0.1656 SCN4A Seb Lunke Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1655 SCN4A Seb Lunke reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26700687; Phenotypes: Congenital myopathy, Myasthenic syndrome, congenital, 16 MIM#614198; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4399 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Intellectual disability syndromic and non-syndromic v0.4399 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4399 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659
Intellectual disability syndromic and non-syndromic v0.4398 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Intellectual disability syndromic and non-syndromic v0.4397 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 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 v0.4396 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1655 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 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)
Fetal anomalies v0.1654 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Fetal anomalies v0.1653 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from tellectual developmental disorder, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, MIM# 300659
Mendeliome v0.10407 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Mendeliome v0.10407 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Mendeliome v0.10407 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659
Mendeliome v0.10406 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Mendeliome v0.10405 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 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)
Mendeliome v0.10404 BRWD3 Zornitza Stark changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.; to: More than 10 unrelated families reported with ID, overgrowth, and in particular macrocephaly.
Mendeliome v0.10404 BRWD3 Zornitza Stark changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly reported.; to: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.
Mendeliome v0.10404 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Overgrowth v1.7 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, OMIM # 300659
Overgrowth v1.6 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to 17668385
Overgrowth v1.5 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Overgrowth v1.4 BRWD3 Zornitza Stark edited their review of gene: BRWD3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1652 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Fetal anomalies v0.1652 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1652 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from MENTAL RETARDATION X-LINKED TYPE 93 to tellectual developmental disorder, X-linked 93, MIM# 300659
Fetal anomalies v0.1651 BRWD3 Zornitza Stark Classified gene: BRWD3 as Amber List (moderate evidence)
Fetal anomalies v0.1651 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1650 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM# 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10404 ING1 Seb Lunke Deleted their comment
Mendeliome v0.10404 ING1 Seb Lunke Marked gene: ING1 as ready
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment when marking as ready: Cancer association only. Red for mendeliome.
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.10404 ING1 Seb Lunke Classified gene: ING1 as Red List (low evidence)
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment on list classification: Cancer association only
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1650 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Fetal anomalies v0.1650 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1650 BRCA1 Zornitza Stark Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY to Fanconi anaemia, complementation group S, MIM# 617883
Fetal anomalies v0.1649 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Fetal anomalies v0.1649 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1648 BRCA1 Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group S, MIM# 617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10403 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Mendeliome v0.10403 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Mendeliome v0.10403 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Mendeliome v0.10402 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Mendeliome v0.10401 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1648 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Fetal anomalies v0.1648 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Red List (Low Evidence).
Fetal anomalies v0.1648 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ib, MIM# 248600
Fetal anomalies v0.1647 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Mendeliome v0.10400 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Mendeliome v0.10400 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Mendeliome v0.10399 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Mendeliome v0.10398 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1647 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Fetal anomalies v0.1647 BCKDHA Zornitza Stark Gene: bckdha has been classified as Red List (Low Evidence).
Fetal anomalies v0.1647 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ia, MIM# 248600
Fetal anomalies v0.1646 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 FSCN2 Seb Lunke Marked gene: FSCN2 as ready
Mendeliome v0.10397 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10397 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Mendeliome v0.10396 FSCN2 Seb Lunke Publications for gene: FSCN2 were set to
Mendeliome v0.10395 FSCN2 Seb Lunke Mode of inheritance for gene: FSCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10394 FSCN2 Seb Lunke Classified gene: FSCN2 as Red List (low evidence)
Mendeliome v0.10394 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10394 FSCN2 Seb Lunke Classified gene: FSCN2 as Red List (low evidence)
Mendeliome v0.10394 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10393 FSCN2 Seb Lunke reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.31 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Cerebellar and Pontocerebellar Hypoplasia v1.24 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v1.23 AUTS2 Zornitza Stark reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: None
Cerebral Palsy v1.21 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Cerebral Palsy v1.20 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Intellectual disability syndromic and non-syndromic v0.4396 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Intellectual disability syndromic and non-syndromic v0.4395 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Tag SV/CNV tag was added to gene: AUTS2.
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Added comment: Comment when marking as ready: Note CNVs common.
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Gene: auts2 has been classified as Green List (High Evidence).
Mendeliome v0.10393 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Mendeliome v0.10392 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Fetal anomalies v0.1645 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to
Fetal anomalies v0.1644 AUTS2 Zornitza Stark Mode of inheritance for gene: AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1643 AUTS2 Zornitza Stark Classified gene: AUTS2 as Green List (high evidence)
Fetal anomalies v0.1643 AUTS2 Zornitza Stark Gene: auts2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1642 AUTS2 Zornitza Stark changed review comment from: Mental retardation, autosomal dominant 26, MIM#615834; to: Low birth weight and microcephaly reported.
Fetal anomalies v0.1642 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Mendeliome v0.10392 AUH Zornitza Stark Marked gene: AUH as ready
Mendeliome v0.10392 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Mendeliome v0.10392 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Mendeliome v0.10391 AUH Zornitza Stark Publications for gene: AUH were set to
Mendeliome v0.10390 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10389 AUH Zornitza Stark reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1642 AUH Zornitza Stark Marked gene: AUH as ready
Fetal anomalies v0.1642 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Fetal anomalies v0.1642 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-METHYLGLUTACONIC ACIDURIA TYPE 1 to 3-methylglutaconic aciduria, type I, MIM# 250950
Fetal anomalies v0.1641 AUH Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.218 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Cholestasis v0.218 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Cholestasis v0.218 ATP8B1 Zornitza Stark Publications for gene: ATP8B1 were set to
Cholestasis v0.217 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.216 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10389 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10389 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Mendeliome v0.10389 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Cholestasis v0.216 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Cholestasis v0.216 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10389 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.216 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10388 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10387 ATP8B1 Zornitza Stark Publications for gene: ATP8B1 were set to
Cholestasis v0.215 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10386 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300
Cholestasis v0.214 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300
Mendeliome v0.10385 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.214 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10384 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1641 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Fetal anomalies v0.1641 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1641 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, progressive familial intrahepatic 1, MIM# 211600
Fetal anomalies v0.1640 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1640 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Fetal anomalies v0.1640 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1640 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Fetal anomalies v0.1639 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1639 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Fetal anomalies v0.1639 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1639 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria
Fetal anomalies v0.1638 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Fetal anomalies v0.1637 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1636 ATP1A3 Zornitza Stark Classified gene: ATP1A3 as Green List (high evidence)
Fetal anomalies v0.1636 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1635 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Added comment: Individuals with PMG reported.; Changed publications: 33762331, 33880529; Changed phenotypes: Developmental and epileptic encephalopathy 99, MIM# 619606, Polymicrogyria
Fetal anomalies v0.1635 ATP1A3 Zornitza Stark Deleted their comment
Fetal anomalies v0.1635 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Fetal anomalies v0.1635 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1635 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from PARKINSON DISEASE 9 to Kufor-Rakeb syndrome, MIM# 606693; Spastic paraplegia 78, autosomal recessive, MIM# 617225
Fetal anomalies v0.1634 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693, Spastic paraplegia 78, autosomal recessive, MIM# 617225; Mode of inheritance: None
Fetal anomalies v0.1634 ATM Zornitza Stark Marked gene: ATM as ready
Fetal anomalies v0.1634 ATM Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
Fetal anomalies v0.1634 ATM Zornitza Stark Phenotypes for gene: ATM were changed from ATAXIA-TELANGIECTASIA to Ataxia-telangiectasia, MIM# 208900
Fetal anomalies v0.1633 ATM Zornitza Stark reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1633 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Fetal anomalies v0.1633 ACAT1 Zornitza Stark Gene: acat1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1633 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from ALPHA-METHYLACETOACETIC ACIDURIA to Alpha-methylacetoacetic aciduria, MIM# 203750
Fetal anomalies v0.1632 ACADS Zornitza Stark Marked gene: ACADS as ready
Fetal anomalies v0.1632 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Fetal anomalies v0.1632 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Fetal anomalies v0.1631 ACADM Zornitza Stark Marked gene: ACADM as ready
Fetal anomalies v0.1631 ACADM Zornitza Stark Gene: acadm has been classified as Red List (Low Evidence).
Fetal anomalies v0.1631 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Mendeliome v0.10384 RNF213 Zornitza Stark Marked gene: RNF213 as ready
Mendeliome v0.10384 RNF213 Zornitza Stark Gene: rnf213 has been classified as Green List (High Evidence).
Mendeliome v0.10384 RNF213 Zornitza Stark Phenotypes for gene: RNF213 were changed from to Susceptibility to Moyamoya disease 2, (MIM# 607151)
Mendeliome v0.10383 RNF213 Zornitza Stark Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10382 DRD5 Zornitza Stark Marked gene: DRD5 as ready
Mendeliome v0.10382 DRD5 Zornitza Stark Gene: drd5 has been classified as Red List (Low Evidence).
Mendeliome v0.10382 DRD5 Zornitza Stark Classified gene: DRD5 as Red List (low evidence)
Mendeliome v0.10382 DRD5 Zornitza Stark Gene: drd5 has been classified as Red List (Low Evidence).
Mendeliome v0.10381 AXIN1 Zornitza Stark Marked gene: AXIN1 as ready
Mendeliome v0.10381 AXIN1 Zornitza Stark Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v0.10381 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from to Caudal duplication anomaly, MIM# 607864
Mendeliome v0.10380 AXIN1 Zornitza Stark Publications for gene: AXIN1 were set to
Mendeliome v0.10379 AXIN1 Zornitza Stark Classified gene: AXIN1 as Red List (low evidence)
Mendeliome v0.10379 AXIN1 Zornitza Stark Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v0.10378 AXIN1 Zornitza Stark reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: 9335612; Phenotypes: Caudal duplication anomaly, MIM# 607864; Mode of inheritance: None
Fetal anomalies v0.1630 ASL Zornitza Stark Marked gene: ASL as ready
Fetal anomalies v0.1630 ASL Zornitza Stark Gene: asl has been classified as Red List (Low Evidence).
Mendeliome v0.10378 ASL Zornitza Stark Marked gene: ASL as ready
Mendeliome v0.10378 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Mendeliome v0.10378 ASL Zornitza Stark Publications for gene: ASL were set to
Mendeliome v0.10377 ASL Zornitza Stark Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Fetal anomalies v0.1630 ASL Zornitza Stark Phenotypes for gene: ASL were changed from ARGININOSUCCINATE LYASE DEFICIENCY to Argininosuccinic aciduria, MIM#207900
Mendeliome v0.10376 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1629 ASL Zornitza Stark changed review comment from: Intellectual disability is a feature of this metabolic condition.; to: Onset is typically post-natal.
Fetal anomalies v0.1629 ASL Zornitza Stark edited their review of gene: ASL: Changed rating: RED
Mendeliome v0.10375 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Mendeliome v0.10375 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Mendeliome v0.10375 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism
Mendeliome v0.10374 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Mendeliome v0.10373 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1629 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Fetal anomalies v0.1629 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1629 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from ARGININEMIA to Argininaemia, MIM# 207800
Fetal anomalies v0.1628 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10372 TWIST2 Zornitza Stark Marked gene: TWIST2 as ready
Mendeliome v0.10372 TWIST2 Zornitza Stark Gene: twist2 has been classified as Green List (High Evidence).
Mendeliome v0.10372 TWIST2 Zornitza Stark Phenotypes for gene: TWIST2 were changed from to Ablepharon-macrostomia syndrome, MIM# 200110; Barber-Say syndrome, MIM# 209885; Focal facial dermal dysplasia 3, Setleis type, MIM# 227260
Mendeliome v0.10371 TWIST2 Zornitza Stark Publications for gene: TWIST2 were set to
Mendeliome v0.10370 TWIST2 Zornitza Stark Mode of inheritance for gene: TWIST2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10369 TWIST2 Zornitza Stark reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403, 21931173, 26119818; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1628 TWIST2 Zornitza Stark Publications for gene: TWIST2 were set to 26119818
Fetal anomalies v0.1627 TWIST2 Zornitza Stark Mode of inheritance for gene: TWIST2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10369 RNF213 Ain Roesley reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 28635953; Phenotypes: usceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10369 DRD5 Ain Roesley reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10369 AXIN1 Ain Roesley reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Ataxia v0.300 APTX Zornitza Stark Marked gene: APTX as ready
Ataxia v0.300 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Ataxia v0.300 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Ataxia v0.299 APTX Zornitza Stark Publications for gene: APTX were set to
Ataxia v0.298 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10369 APTX Zornitza Stark Marked gene: APTX as ready
Mendeliome v0.10369 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Mendeliome v0.10369 APTX Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Mendeliome v0.10368 APTX Zornitza Stark Publications for gene: APTX were set to
Mendeliome v0.10367 APTX Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1626 APTX Zornitza Stark Marked gene: APTX as ready
Fetal anomalies v0.1626 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Fetal anomalies v0.1626 APTX Zornitza Stark Phenotypes for gene: APTX were changed from ATAXIA WITH OCULOMOTOR APRAXIA 1 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920
Fetal anomalies v0.1625 APTX Zornitza Stark edited their review of gene: APTX: Changed phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920
Fetal anomalies v0.1625 APTX Zornitza Stark changed review comment from: Progressive neurological condition, including cognitive deterioration in some but not truly intellectual disability.; to: Progressive neurological condition, post-natal onset.
Fetal anomalies v0.1625 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Fetal anomalies v0.1625 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1625 APOPT1 Zornitza Stark Phenotypes for gene: APOPT1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061
Fetal anomalies v0.1624 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to
Fetal anomalies v0.1623 APOPT1 Zornitza Stark changed review comment from: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.

Clinical presentation is typically in childhood.; to: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.

Clinical presentation is typically in early childhood.
Fetal anomalies v0.1623 APOPT1 Zornitza Stark changed review comment from: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.; to: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.

Clinical presentation is typically in childhood.
Fetal anomalies v0.1623 APOPT1 Zornitza Stark edited their review of gene: APOPT1: Changed rating: RED
Fetal anomalies v0.1623 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Fetal anomalies v0.1623 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1623 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Fetal anomalies v0.1622 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Fetal anomalies v0.1621 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: RED; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1621 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Fetal anomalies v0.1621 ANO5 Zornitza Stark Gene: ano5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1621 ANO5 Zornitza Stark Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 to Gnathodiaphyseal dysplasia, MIM# 166260; Miyoshi muscular dystrophy 3, MIM# 613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307
Fetal anomalies v0.1620 ANO5 Zornitza Stark reviewed gene: ANO5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gnathodiaphyseal dysplasia, MIM# 166260, Miyoshi muscular dystrophy 3, MIM# 613319, Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1620 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Fetal anomalies v0.1620 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1620 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from ALS2-RELATED DISORDERS to Spastic paralysis, infantile onset ascending, MIM#607225
Fetal anomalies v0.1619 ALS2 Zornitza Stark changed review comment from: Progressive neurological conditions, but cognition is normal.; to: Progressive neurological condition, onset is post-natal.
Fetal anomalies v0.1619 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Fetal anomalies v0.1619 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Fetal anomalies v0.1619 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from HEREDITARY FRUCTOSE INTOLERANCE to Fructose intolerance, hereditary, MIM#229600
Fetal anomalies v0.1618 ALDOB Zornitza Stark changed review comment from: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; to: Presentation is typically post-natal.
Fetal anomalies v0.1618 ALDOB Zornitza Stark Deleted their comment
Fetal anomalies v0.1618 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Fetal anomalies v0.1618 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1618 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Fetal anomalies v0.1617 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Fetal anomalies v0.1616 ALDH5A1 Zornitza Stark changed review comment from: Over 50 unrelated families reported. Intellectual disability is part of the phenotype, which also includes developmental delay, hypotonia, ataxia, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.; to: Over 50 unrelated families reported. Typically presents post-natally with intellectual disability, hypotonia, ataxia, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.
Fetal anomalies v0.1616 ALDH5A1 Zornitza Stark edited their review of gene: ALDH5A1: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.4395 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Intellectual disability syndromic and non-syndromic v0.4395 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4395 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Intellectual disability syndromic and non-syndromic v0.4394 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to
Intellectual disability syndromic and non-syndromic v0.4393 ALDH4A1 Zornitza Stark Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4392 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinemia, type II MIM#239510, disorders of ornithine or proline metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Mendeliome v0.10365 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to
Mendeliome v0.10364 ALDH4A1 Zornitza Stark Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10363 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1616 TWIST2 Alison Yeung Marked gene: TWIST2 as ready
Fetal anomalies v0.1616 TWIST2 Alison Yeung Added comment: Comment when marking as ready: Congenital conditions associated with multiple fetal anomalies including ambiguous genitalia, microtia, macrostomia
Fetal anomalies v0.1616 TWIST2 Alison Yeung Gene: twist2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1616 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Fetal anomalies v0.1616 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1616 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from HYPERPROLINEMIA TYPE 2 to Hyperprolinaemia, type II, MIM# 239510
Fetal anomalies v0.1615 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1615 TWIST2 Alison Yeung reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1615 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Fetal anomalies v0.1615 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from BURN MCKEOWN SYNDROME to Burn-McKeown syndrome, MIM# 608572
Fetal anomalies v0.1614 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Fetal anomalies v0.1613 TXNL4A Zornitza Stark Deleted their review
Mendeliome v0.10363 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Mendeliome v0.10363 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Mendeliome v0.10363 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Mendeliome v0.10362 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Mendeliome v0.10361 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10360 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1613 VLDLR Zornitza Stark Deleted their review
Fetal anomalies v0.1613 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Fetal anomalies v0.1612 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Fetal anomalies v0.1611 TXNL4A Alison Yeung Marked gene: TXNL4A as ready
Fetal anomalies v0.1611 TXNL4A Alison Yeung Gene: txnl4a has been classified as Green List (High Evidence).
Fetal anomalies v0.1611 TXNL4A Alison Yeung reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: BURN-MCKEOWN SYNDROME, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1611 VLDLR Alison Yeung Marked gene: VLDLR as ready
Fetal anomalies v0.1611 VLDLR Alison Yeung Gene: vldlr has been classified as Green List (High Evidence).
Fetal anomalies v0.1611 VLDLR Alison Yeung reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Marked gene: CSTF2 as ready
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Classified gene: CSTF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4391 CSTF2 Zornitza Stark gene: CSTF2 was added
gene: CSTF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CSTF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CSTF2 were set to 32816001
Phenotypes for gene: CSTF2 were set to Intellectual disability
Review for gene: CSTF2 was set to AMBER
Added comment: Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay.
Sources: Literature
Mendeliome v0.10360 CSTF2 Zornitza Stark Marked gene: CSTF2 as ready
Mendeliome v0.10360 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10360 CSTF2 Zornitza Stark Classified gene: CSTF2 as Amber List (moderate evidence)
Mendeliome v0.10360 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10359 CSTF2 Zornitza Stark gene: CSTF2 was added
gene: CSTF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CSTF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CSTF2 were set to 32816001
Phenotypes for gene: CSTF2 were set to Intellectual disability
Review for gene: CSTF2 was set to AMBER
Added comment: Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay.
Sources: Literature
Mendeliome v0.10358 ALAD Zornitza Stark Marked gene: ALAD as ready
Mendeliome v0.10358 ALAD Zornitza Stark Gene: alad has been classified as Green List (High Evidence).
Mendeliome v0.10358 ALAD Zornitza Stark Phenotypes for gene: ALAD were changed from to Porphyria, acute hepatic , MIM#612740
Mendeliome v0.10357 ALAD Zornitza Stark Publications for gene: ALAD were set to
Mendeliome v0.10356 ALAD Zornitza Stark Mode of inheritance for gene: ALAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 ALAD Zornitza Stark reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1611 ALAD Zornitza Stark Marked gene: ALAD as ready
Fetal anomalies v0.1611 ALAD Zornitza Stark Gene: alad has been classified as Red List (Low Evidence).
Fetal anomalies v0.1611 ALAD Zornitza Stark Phenotypes for gene: ALAD were changed from ACUTE HEPATIC PORPHYRIA to Porphyria, acute hepatic , MIM#612740
Fetal anomalies v0.1610 ALAD Zornitza Stark reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 HMGCR Zornitza Stark Phenotypes for gene: HMGCR were changed from to [Low density lipoprotein cholesterol level QTL 3]
Mendeliome v0.10354 HMGCR Zornitza Stark Marked gene: HMGCR as ready
Mendeliome v0.10354 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10354 HMGCR Zornitza Stark Publications for gene: HMGCR were set to
Mendeliome v0.10353 HMGCR Zornitza Stark Classified gene: HMGCR as Red List (low evidence)
Mendeliome v0.10353 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10352 HMGCR Lucy Spencer reviewed gene: HMGCR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18354102, 29480216; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4390 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Intellectual disability syndromic and non-syndromic v0.4390 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4390 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Intellectual disability syndromic and non-syndromic v0.4389 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Intellectual disability syndromic and non-syndromic v0.4388 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4387 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.110 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Hydrocephalus_Ventriculomegaly v0.110 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.110 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Hydrocephalus_Ventriculomegaly v0.109 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Hydrocephalus_Ventriculomegaly v0.108 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.107 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10352 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Mendeliome v0.10352 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Mendeliome v0.10352 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Mendeliome v0.10351 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Mendeliome v0.10350 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10349 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1610 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Fetal anomalies v0.1610 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1610 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Fetal anomalies v0.1609 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Fetal anomalies v0.1608 FLVCR2 Zornitza Stark edited their review of gene: FLVCR2: Added comment: The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a (usually) prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation.

At least 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 30712878, 20206334, 20518025, 20690116, 25677735; Changed phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Mendeliome v0.10349 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Mendeliome v0.10349 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Mendeliome v0.10349 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from to Congenital heart defects, multiple types, 7, MIM# 618780; Lymphatic malformation 1, MIM# 153100
Mendeliome v0.10348 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Mendeliome v0.10347 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10346 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9817924, 10835628, 12960217, 30232381; Phenotypes: Congenital heart defects, multiple types, 7, MIM# 618780, Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1608 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Fetal anomalies v0.1608 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1608 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from MILROY DISEASE to Congenital heart defects, multiple types, 7, MIM# 618780; Lymphatic malformation 1, MIM# 153100
Fetal anomalies v0.1607 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Fetal anomalies v0.1606 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1605 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9817924, 10835628, 12960217; Phenotypes: Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1605 FLNB Zornitza Stark Marked gene: FLNB as ready
Fetal anomalies v0.1605 FLNB Zornitza Stark Gene: flnb has been classified as Green List (High Evidence).
Fetal anomalies v0.1605 FLNB Zornitza Stark Phenotypes for gene: FLNB were changed from BOOMERANG DYSPLASIA; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; ATELOSTEOGENESIS TYPE 3; AUTOSOMAL DOMINANT LARSEN SYNDROME; ATELOSTEOGENESIS TYPE 1 to Larsen syndrome, MIM#150250; Atelosteogenesis, type I, MIM# 108720; Atelosteogenesis, type III, MIM# 108721; Boomerang dysplasia, MIM# 112310; Spondylocarpotarsal synostosis syndrome, MIM# 272460
Fetal anomalies v0.1604 FLNB Zornitza Stark changed review comment from: Gene associated with a number of skeletal dysplasias, ID not typically a feature.; to: Gene associated with a number of skeletal dysplasias, which are relevant to the pre-natal setting.
Fetal anomalies v0.1604 FLNB Zornitza Stark edited their review of gene: FLNB: Changed rating: GREEN; Changed phenotypes: Larsen syndrome, MIM#150250, Atelosteogenesis, type I, MIM# 108720, Atelosteogenesis, type III, MIM# 108721, Boomerang dysplasia, MIM# 112310, Spondylocarpotarsal synostosis syndrome, MIM# 272460; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10346 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from Recombination rate QTL 1, MIM#612042 to Recombination rate QTL 1, MIM#612042; Spermatogenic failure 62, MIM# 619673
Mendeliome v0.10345 RNF212 Zornitza Stark Publications for gene: RNF212 were set to 18239089; 29277047
Mendeliome v0.10344 RNF212 Zornitza Stark Mode of inheritance for gene: RNF212 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10343 RNF212 Zornitza Stark reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 31125047, 23396135; Phenotypes: Spermatogenic failure 62, MIM# 619673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10343 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723 to Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672
Mendeliome v0.10342 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark edited their review of gene: STAG3: Changed phenotypes: Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672 to Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.279 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903; 31125047; 31682730; 32634216
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.278 STAG3 Zornitza Stark Deleted their comment
Mendeliome v0.10341 STAG3 Zornitza Stark reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31125047, 31682730, 32634216; Phenotypes: Spermatogenic failure 61, MIM# 619672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.278 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723 to Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.277 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.276 STAG3 Zornitza Stark Mode of inheritance for gene: STAG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 STAG3 Zornitza Stark reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31125047, 31682730, 32634216; Phenotypes: Spermatogenic failure 61, MIM# 619672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1604 FLNA Zornitza Stark Marked gene: FLNA as ready
Fetal anomalies v0.1604 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Fetal anomalies v0.1604 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1 to Melnick-Needles syndrome, 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244; Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400
Fetal anomalies v0.1603 FLNA Zornitza Stark Publications for gene: FLNA were set to 30712878; 28425981
Fetal anomalies v0.1602 FLNA Zornitza Stark changed review comment from: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert list; to: Multiple FLNA-related disorders are relevant to this panel.

Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert list
Fetal anomalies v0.1602 FLNA Zornitza Stark edited their review of gene: FLNA: Changed phenotypes: Melnick-Needles syndrome, 309350, Otopalatodigital syndrome, type I 311300, Otopalatodigital syndrome, type II 304120, Terminal osseous dysplasia 300244, Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400
Fetal anomalies v0.1602 FKTN Zornitza Stark Marked gene: FKTN as ready
Fetal anomalies v0.1602 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Fetal anomalies v0.1602 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4; CARDIOMYOPATHY DILATED TYPE 1X; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Fetal anomalies v0.1601 FKTN Zornitza Stark Publications for gene: FKTN were set to
Fetal anomalies v0.1600 FKTN Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Brain abnormalities are part of the more severe end of the spectrum.
Fetal anomalies v0.1600 FKTN Zornitza Stark edited their review of gene: FKTN: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Fetal anomalies v0.1600 FKRP Zornitza Stark Marked gene: FKRP as ready
Fetal anomalies v0.1600 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Fetal anomalies v0.1600 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Fetal anomalies v0.1599 FKRP Zornitza Stark Publications for gene: FKRP were set to
Fetal anomalies v0.1598 FKRP Zornitza Stark edited their review of gene: FKRP: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Fetal anomalies v0.1598 FKRP Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Brain abnormalities at the more severe end of the spectrum.
Fetal anomalies v0.1598 FH Zornitza Stark Marked gene: FH as ready
Fetal anomalies v0.1598 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Fetal anomalies v0.1598 FH Zornitza Stark Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, MIM# 606812
Fetal anomalies v0.1597 FH Zornitza Stark Publications for gene: FH were set to
Fetal anomalies v0.1596 FH Zornitza Stark changed review comment from: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.
Sources: Expert list; to: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.

Polymicrogyria and CC abnormalities reported.

Sources: Expert list
Fetal anomalies v0.1596 FH Zornitza Stark edited their review of gene: FH: Changed rating: GREEN; Changed phenotypes: Fumarase deficiency, MIM# 606812
Fetal anomalies v0.1596 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Fetal anomalies v0.1596 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1596 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS to LADD syndrome, MIM#149730; Achondroplasia, MIM# 100800; Thanatophoric dysplasia, type I, MIM# 187600; Thanatophoric dysplasia, type II, MIM# 187601
Fetal anomalies v0.1595 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1594 FGFR3 Zornitza Stark changed review comment from: Well established gene-disease association. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list; to: Well established gene-disease association with skeletal dysplasias of variable severity, including perinatal lethal. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list
Fetal anomalies v0.1594 FGFR3 Zornitza Stark edited their review of gene: FGFR3: Changed phenotypes: LADD syndrome, MIM#149730, Achondroplasia, MIM# 100800, Thanatophoric dysplasia, type I, MIM# 187600, Thanatophoric dysplasia, type II, MIM# 187601
Fetal anomalies v0.1594 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Fetal anomalies v0.1594 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1594 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME to LADD syndrome, MIM#149730; Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Jackson-Weiss syndrome, MIM# 123150; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400
Fetal anomalies v0.1593 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1592 FGFR2 Zornitza Stark changed review comment from: Well established gene-disease association. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list; to: Well established gene-disease association with multiple craniosynostosis syndromes. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list
Fetal anomalies v0.1592 FGFR2 Zornitza Stark edited their review of gene: FGFR2: Changed phenotypes: LADD syndrome, MIM#149730, Apert syndrome, MIM# 101200, Crouzon syndrome, MIM# 123500, Jackson-Weiss syndrome, MIM# 123150, Pfeiffer syndrome, MIM# 101600, Saethre-Chotzen syndrome, MIM# 101400
Fetal anomalies v0.1592 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Fetal anomalies v0.1592 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1592 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM to Pfeiffer syndrome, MIM# 101600
Fetal anomalies v0.1591 FGFR1 Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other
Fetal anomalies v0.1590 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1589 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Fetal anomalies v0.1589 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1589 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Fetal anomalies v0.1588 FGF3 Zornitza Stark Publications for gene: FGF3 were set to
Fetal anomalies v0.1587 FGF3 Zornitza Stark changed review comment from: Most features would not be detectable antenatally, but micrognathia may be evident.; to: Most features would not be detectable antenatally, but micrognathia may be evident.

Over 50 affected individuals reported, functional data including animal models, expression studies and in vitro functional assays.
Fetal anomalies v0.1587 FGF3 Zornitza Stark edited their review of gene: FGF3: Changed publications: 21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125
Fetal anomalies v0.1587 FGF3 Zornitza Stark changed review comment from: Delay in gross motor skills thought to be related to balance issues, not truly ID.; to: Most features would not be detectable antenatally, but micrognathia may be evident.
Fetal anomalies v0.1587 FGF3 Zornitza Stark edited their review of gene: FGF3: Changed rating: GREEN
Fetal anomalies v0.1587 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Fetal anomalies v0.1587 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1587 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from LADD SYNDROME to Lacrimoauriculodentodigital syndrome (149730)
Fetal anomalies v0.1586 FGF10 Zornitza Stark Publications for gene: FGF10 were set to
Fetal anomalies v0.1585 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1584 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Fetal anomalies v0.1584 FGD1 Zornitza Stark Gene: fgd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1584 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from AARSKOG-SCOTT SYNDROME to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400
Fetal anomalies v0.1583 FGD1 Zornitza Stark Publications for gene: FGD1 were set to
Fetal anomalies v0.1582 FGD1 Zornitza Stark changed review comment from: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature.

Numerous cases reported with variants in FGD1 gene with replication over time.; to: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature.

Cleft lip/palate reported.

Numerous cases reported with variants in FGD1 gene with replication over time.
Fetal anomalies v0.1582 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Fetal anomalies v0.1582 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1582 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Fetal anomalies v0.1581 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Fetal anomalies v0.1580 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Fetal anomalies v0.1580 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1580 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1579 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Fetal anomalies v0.1579 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1579 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Marfan syndrome, MIM# 154700
Fetal anomalies v0.1578 FBN1 Zornitza Stark Publications for gene: FBN1 were set to 30266093
Cutis Laxa v0.10 FBLN5 Zornitza Stark changed review comment from: >3 families reported and functional data including mouse model.
Sources: Expert list; to: >3 families reported and functional data including mouse model.

Single report of mono-allelic variant (large intragenic duplication).

Sources: Expert list
Cutis Laxa v0.10 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Cutis Laxa v0.10 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Cutis Laxa v0.10 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434 to Cutis laxa, autosomal recessive, type IA MIM#219100; Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.9 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Genetic Epilepsy v0.1413 CSNK2B Emma Goss reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34041744 DOI: 10.1111/epi.16931; Phenotypes: genetic epilepsy, developmental delay, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10341 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Mendeliome v0.10341 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Mendeliome v0.10341 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100; Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)
Mendeliome v0.10340 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Mendeliome v0.10339 FBLN5 Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10338 FBLN5 Zornitza Stark changed review comment from: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).

Neuropathy +/- macular degeneration:
PMID: 32757322
- 38 individuals from 19 families
- all missense, R373C, D329V and R331H
- some carriers were subjectively healthy although pes cavus, diminished or absent deep tendon reflexesor NCV studies indicate peripheral neuropathy

PMID: 31945625
- 1 family with 2 affecteds, R373C
- 1 obligate carrier presented no symptoms

PMID: 28332470
- 3 affecteds in 1 family with R373C; to: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).
Mendeliome v0.10338 FBLN5 Zornitza Stark reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618961, 3232707, 22829427, 11805835, 32757322, 31945625, 23328402, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100, Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1577 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Fetal anomalies v0.1577 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1577 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from Cutis laxa 219100; Cutis laxa 614434 to Cutis laxa, autosomal recessive, type IA, MIM#219100
Fetal anomalies v0.1576 FBLN5 Zornitza Stark changed review comment from: ID is not typically a feature.; to: Fetal overgrowth, CDH and joint dislocations/bone fractures reported.
Fetal anomalies v0.1576 FBLN5 Zornitza Stark edited their review of gene: FBLN5: Changed rating: GREEN
Fetal anomalies v0.1576 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Fetal anomalies v0.1576 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1576 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338
Fetal anomalies v0.1575 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Fetal anomalies v0.1574 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1573 FANCI Zornitza Stark Marked gene: FANCI as ready
Fetal anomalies v0.1573 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Fetal anomalies v0.1573 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from FANCI-RELATED FANCONI ANEMIA; FANCONI ANEMIA to Fanconi anaemia, complementation group I, MIM# 609053; MONDO:0012186
Fetal anomalies v0.1572 FANCI Zornitza Stark Publications for gene: FANCI were set to
Fetal anomalies v0.1571 FANCG Zornitza Stark Marked gene: FANCG as ready
Fetal anomalies v0.1571 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Fetal anomalies v0.1571 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP G to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Fetal anomalies v0.1570 FANCG Zornitza Stark Publications for gene: FANCG were set to
Fetal anomalies v0.1569 FANCF Zornitza Stark Marked gene: FANCF as ready
Fetal anomalies v0.1569 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Fetal anomalies v0.1569 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP F to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Fetal anomalies v0.1568 FANCF Zornitza Stark Publications for gene: FANCF were set to
Fetal anomalies v0.1567 FANCE Zornitza Stark Marked gene: FANCE as ready
Fetal anomalies v0.1567 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Fetal anomalies v0.1567 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP E to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Fetal anomalies v0.1566 FANCE Zornitza Stark Publications for gene: FANCE were set to
Fetal anomalies v0.1565 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Fetal anomalies v0.1565 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1565 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP D2 to Fanconi anaemia, complementation group D2, MIM# 227646
Fetal anomalies v0.1564 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Fetal anomalies v0.1563 FANCC Zornitza Stark Marked gene: FANCC as ready
Fetal anomalies v0.1563 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Fetal anomalies v0.1563 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP C to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Fetal anomalies v0.1562 FANCC Zornitza Stark Publications for gene: FANCC were set to
Fetal anomalies v0.1561 FANCB Zornitza Stark Marked gene: FANCB as ready
Fetal anomalies v0.1561 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Fetal anomalies v0.1561 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from FANCB-RELATED FANCONI ANEMIA to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Fetal anomalies v0.1560 FANCB Zornitza Stark Publications for gene: FANCB were set to 28425981
Fetal anomalies v0.1559 FANCA Zornitza Stark Marked gene: FANCA as ready
Fetal anomalies v0.1559 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Fetal anomalies v0.1559 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP A to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Fetal anomalies v0.1558 FANCA Zornitza Stark Publications for gene: FANCA were set to
Mendeliome v0.10338 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Cantú Syndrome
Mendeliome v0.10337 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from Brugada syndrome to Cantú Syndrome
Mendeliome v0.10336 KCNJ8 Zornitza Stark Publications for gene: KCNJ8 were set to 29959160
Mendeliome v0.10335 KCNJ8 Zornitza Stark Mode of pathogenicity for gene: KCNJ8 was changed from to Other
Mendeliome v0.10334 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Green List (high evidence)
Mendeliome v0.10334 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.266 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262
Additional findings_Paediatric v0.265 MYH7 Zornitza Stark edited their review of gene: MYH7: Changed phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600, Laing early-onset distal myopathy, MONDO:0008050, Left ventricular noncompaction 5, OMIM:613426, Cardiomyopathy, dilated, 1S, OMIM:613426, Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262
Additional findings_Paediatric v0.265 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262; Mode of inheritance: None
Fetal anomalies v0.1557 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: None
Fetal anomalies v0.1557 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from Developmental and epileptic encephalopathy 11, MIM#182390 to Developmental and epileptic encephalopathy 11, MIM#613721
Mendeliome v0.10333 KCNJ8 Daniel Flanagan reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10333 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Mendeliome v0.10333 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Mendeliome v0.10333 CITED2 Zornitza Stark Phenotypes for gene: CITED2 were changed from to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431
Mendeliome v0.10332 CITED2 Zornitza Stark Publications for gene: CITED2 were set to
Mendeliome v0.10331 CITED2 Zornitza Stark Mode of inheritance for gene: CITED2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1556 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from Progressive cerebella-cerebral atrophy type 2; PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Fetal anomalies v0.1555 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Fetal anomalies v0.1555 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Intellectual disability syndromic and non-syndromic v0.4386 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Intellectual disability syndromic and non-syndromic v0.4385 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4384 VPS53 Zornitza Stark changed review comment from: Multiple Moroccan Jewish families reported, segregating two founder variants.; to: Multiple Moroccan Jewish families reported, segregating two founder variants. ID is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.4384 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10330 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10330 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Mendeliome v0.10330 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Mendeliome v0.10329 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Mendeliome v0.10328 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10327 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Mendeliome v0.10327 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Mendeliome v0.10327 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Mendeliome v0.10326 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to
Mendeliome v0.10325 NKX2-6 Zornitza Stark Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.168 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Congenital Heart Defect v0.168 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.168 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Congenital Heart Defect v0.167 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to
Congenital Heart Defect v0.166 NKX2-6 Zornitza Stark Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1555 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to 24421281; 15649947
Fetal anomalies v0.1554 NKX2-6 Zornitza Stark Classified gene: NKX2-6 as Green List (high evidence)
Fetal anomalies v0.1554 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1553 NKX2-6 Zornitza Stark Deleted their comment
Fetal anomalies v0.1553 NKX2-6 Zornitza Stark edited their review of gene: NKX2-6: Changed rating: GREEN
Fetal anomalies v0.1553 WNT10B Zornitza Stark Publications for gene: WNT10B were set to
Mendeliome v0.10324 WNT10B Zornitza Stark Phenotypes for gene: WNT10B were changed from to Split-hand/foot malformation 6, OMIM #601906; Tooth agenesis, selective, 8, OMIM #617073
Mendeliome v0.10323 WNT10B Zornitza Stark Publications for gene: WNT10B were set to
Mendeliome v0.10322 WNT10B Zornitza Stark Mode of inheritance for gene: WNT10B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10321 CITED2 Krithika Murali reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1552 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 to Dyskeratosis congenita, autosomal recessive 3, OMIM #613988
Fetal anomalies v0.1551 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Fetal anomalies v0.1550 YY1 Zornitza Stark Publications for gene: YY1 were set to
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark edited their review of gene: YY1: Changed publications: 28575647
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark Marked gene: YY1 as ready
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark Gene: yy1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557
Intellectual disability syndromic and non-syndromic v0.4383 YY1 Zornitza Stark Publications for gene: YY1 were set to
Intellectual disability syndromic and non-syndromic v0.4382 YY1 Zornitza Stark Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4381 YY1 Zornitza Stark reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10321 YY1 Zornitza Stark Marked gene: YY1 as ready
Mendeliome v0.10321 YY1 Zornitza Stark Gene: yy1 has been classified as Green List (High Evidence).
Mendeliome v0.10321 YY1 Zornitza Stark Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557
Mendeliome v0.10320 YY1 Zornitza Stark Publications for gene: YY1 were set to
Mendeliome v0.10319 YY1 Zornitza Stark Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1549 GM2A Zornitza Stark Marked gene: GM2A as ready
Fetal anomalies v0.1549 GM2A Zornitza Stark Gene: gm2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10318 NKX2-6 Krithika Murali reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1549 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from GM2-GANGLIOSIDOSIS TYPE AB to GM2-gangliosidosis, AB variant MIM#272750
Fetal anomalies v0.1548 GM2A Zornitza Stark Publications for gene: GM2A were set to
Fetal anomalies v0.1547 GM2A Zornitza Stark reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10318 GM2A Zornitza Stark Marked gene: GM2A as ready
Mendeliome v0.10318 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Mendeliome v0.10318 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant MIM#272750
Mendeliome v0.10317 GM2A Zornitza Stark Publications for gene: GM2A were set to
Mendeliome v0.10316 GM2A Zornitza Stark Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1547 VPS53 Alison Yeung Marked gene: VPS53 as ready
Fetal anomalies v0.1547 VPS53 Alison Yeung Gene: vps53 has been classified as Green List (High Evidence).
Mendeliome v0.10315 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Fetal anomalies v0.1547 VPS53 Alison Yeung reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10314 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Mendeliome v0.10314 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed rating: GREEN; Changed publications: 33020172, 34737117
Fetal anomalies v0.1547 GANAB Zornitza Stark Marked gene: GANAB as ready
Fetal anomalies v0.1547 GANAB Zornitza Stark Gene: ganab has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.165 NKX2-6 Krithika Murali reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10313 VPS53 Alison Yeung Marked gene: VPS53 as ready
Mendeliome v0.10313 VPS53 Alison Yeung Gene: vps53 has been classified as Green List (High Evidence).
Fetal anomalies v0.1547 GFRA1 Zornitza Stark Marked gene: GFRA1 as ready
Fetal anomalies v0.1547 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1547 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Mendeliome v0.10313 VPS53 Alison Yeung reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1546 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Fetal anomalies v0.1546 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1545 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Fetal anomalies v0.1545 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1545 GATA3 Zornitza Stark Publications for gene: GATA3 were set to
Fetal anomalies v0.1544 GATA3 Zornitza Stark Mode of inheritance for gene: GATA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1543 GATA3 Zornitza Stark Classified gene: GATA3 as Green List (high evidence)
Fetal anomalies v0.1543 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1542 NKX2-6 Krithika Murali edited their review of gene: NKX2-6: Added comment: Review updated - 3 unrelated families now reported

PMID 15649947 (Heathcote et al 2005) - first reported biallelic variants NKX2-6 associated with type 1 truncus arteriosis in a large consanguineous family previously described by (Abushaban et al 2003 - 12574981)

PMID 24421281 (Ta-Shma et al 2014) Subsequently reported, another consanguineous family with conotruncal defects (including VSD and TA) and homozygous nonsense NKX2-6 variants. One individual from that family was
also noted to have athymia

PMID 32198970 (Ritter et al 2019) - Reported compound het variants in x2 siblings with truncus arteriosus (2nd sibling diagnosed antenatally) from non-consanguineous family

Additional studies of NKX2-6 identified a
- heterozygous missense variant c.472A > C (p.Lys158Gln) that segregated with VSD (PMID 25380965 Wang et al 2015)
- heterozygous missense variant c.525G > C (p.Gln175His) that segregated in a family with atrial fibrillation (PMID 25319568 Wang et al 2014)

Included in PanelApp as biallelic inheritance but possibility of less severe phenotype with monoallelic inheritance possible - but one reported family only.; Changed publications: 24421281, 15649947, 32198970, 25380965, 25319568
Fetal anomalies v0.1542 GLI1 Zornitza Stark Marked gene: GLI1 as ready
Fetal anomalies v0.1542 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1542 GLI1 Zornitza Stark Publications for gene: GLI1 were set to
Fetal anomalies v0.1541 GLI1 Zornitza Stark Mode of inheritance for gene: GLI1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1540 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Fetal anomalies v0.1540 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Polydactyly v0.244 GLI1 Zornitza Stark Marked gene: GLI1 as ready
Polydactyly v0.244 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Polydactyly v0.244 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Polydactyly v0.244 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GLI1 Zornitza Stark Marked gene: GLI1 as ready
Mendeliome v0.10313 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Mendeliome v0.10313 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1539 WNT10B Alison Yeung Marked gene: WNT10B as ready
Fetal anomalies v0.1539 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Fetal anomalies v0.1539 WNT10B Alison Yeung Classified gene: WNT10B as Green List (high evidence)
Fetal anomalies v0.1539 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Fetal anomalies v0.1538 WNT10B Alison Yeung reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 24211389, 27321946; Phenotypes: Split-hand/foot malformation 6, OMIM #601906; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10312 WNT10B Alison Yeung Marked gene: WNT10B as ready
Mendeliome v0.10312 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Mendeliome v0.10312 WNT10B Alison Yeung reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 24211389, 27321946; Phenotypes: Split-hand/foot malformation 6, OMIM #601906, Tooth agenesis, selective, 8, OMIM #617073; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1538 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Fetal anomalies v0.1538 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1538 GANAB Zornitza Stark Mode of inheritance for gene: GANAB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1537 GANAB Zornitza Stark Classified gene: GANAB as Red List (low evidence)
Fetal anomalies v0.1537 GANAB Zornitza Stark Gene: ganab has been classified as Red List (Low Evidence).
Fetal anomalies v0.1536 GANAB Zornitza Stark reviewed gene: GANAB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 3, MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1536 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92 MIM#617829
Fetal anomalies v0.1535 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Fetal anomalies v0.1534 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Fetal anomalies v0.1533 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1532 GABRB2 Zornitza Stark Classified gene: GABRB2 as Green List (high evidence)
Fetal anomalies v0.1532 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Marked gene: ZNF699 as ready
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Gene: znf699 has been classified as Green List (High Evidence).
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Classified gene: ZNF699 as Green List (high evidence)
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Gene: znf699 has been classified as Green List (High Evidence).
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Green List (high evidence)
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1529 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Fetal anomalies v0.1529 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Fetal anomalies v0.1529 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Fetal anomalies v0.1529 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.165 TLL1 Zornitza Stark Phenotypes for gene: TLL1 were changed from to Atrial septal defect 6 MIM#613087
Fetal anomalies v0.1528 TLL1 Zornitza Stark Marked gene: TLL1 as ready
Fetal anomalies v0.1528 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1528 TLL1 Zornitza Stark Classified gene: TLL1 as Green List (high evidence)
Fetal anomalies v0.1528 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1527 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Fetal anomalies v0.1527 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1527 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Fetal anomalies v0.1527 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1526 TBX2 Zornitza Stark reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1526 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Fetal anomalies v0.1526 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Fetal anomalies v0.1526 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from STAR SYNDROME to STAR syndrome MIM#300707
Fetal anomalies v0.1525 FAM58A Zornitza Stark Publications for gene: FAM58A were set to
Fetal anomalies v0.1524 WRAP53 Alison Yeung Marked gene: WRAP53 as ready
Fetal anomalies v0.1524 WRAP53 Alison Yeung Gene: wrap53 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1524 WRAP53 Alison Yeung Classified gene: WRAP53 as Red List (low evidence)
Fetal anomalies v0.1524 WRAP53 Alison Yeung Added comment: Comment on list classification: Not suitable for fetal anomalies list
Fetal anomalies v0.1524 WRAP53 Alison Yeung Gene: wrap53 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1523 STK4 Zornitza Stark Marked gene: STK4 as ready
Fetal anomalies v0.1523 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1523 STK4 Zornitza Stark Classified gene: STK4 as Green List (high evidence)
Fetal anomalies v0.1523 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1521 SPEN Zornitza Stark Marked gene: SPEN as ready
Fetal anomalies v0.1521 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Fetal anomalies v0.1521 SPEN Zornitza Stark Classified gene: SPEN as Green List (high evidence)
Fetal anomalies v0.1521 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Classified gene: SMAD6 as Green List (high evidence)
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1519 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Fetal anomalies v0.1519 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Fetal anomalies v0.1519 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from RAINE SYNDROME to Raine syndrome MIM#259775
Fetal anomalies v0.1518 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Classified gene: ROBO4 as Amber List (moderate evidence)
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1516 ROBO4 Zornitza Stark reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1516 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Fetal anomalies v0.1516 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Fetal anomalies v0.1516 PRKACB Zornitza Stark Classified gene: PRKACB as Green List (high evidence)
Fetal anomalies v0.1516 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Fetal anomalies v0.1515 PRKACA Zornitza Stark Marked gene: PRKACA as ready
Fetal anomalies v0.1515 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Fetal anomalies v0.1515 WRAP53 Alison Yeung reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM #613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1515 PRKACA Zornitza Stark Classified gene: PRKACA as Green List (high evidence)
Fetal anomalies v0.1515 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Fetal anomalies v0.1514 FAM20A Zornitza Stark Marked gene: FAM20A as ready
Fetal anomalies v0.1514 FAM20A Zornitza Stark Gene: fam20a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1514 FAM20A Zornitza Stark Phenotypes for gene: FAM20A were changed from AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME to Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Fetal anomalies v0.1513 FAM20A Zornitza Stark Publications for gene: FAM20A were set to
Fetal anomalies v0.1512 FAM20A Zornitza Stark Classified gene: FAM20A as Red List (low evidence)
Fetal anomalies v0.1512 FAM20A Zornitza Stark Gene: fam20a has been classified as Red List (Low Evidence).
Mendeliome v0.10312 FAM126A Belinda Chong reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1511 LINS1 Zornitza Stark Marked gene: LINS1 as ready
Fetal anomalies v0.1511 LINS1 Zornitza Stark Gene: lins1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1511 LINS1 Zornitza Stark Phenotypes for gene: LINS1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 27 (MIM#614340); autosomal recessive intellectual disability (MIM#614340)
Fetal anomalies v0.1510 LINS1 Zornitza Stark Publications for gene: LINS1 were set to
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Marked gene: PRDM6 as ready
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Gene: prdm6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Classified gene: PRDM6 as Red List (low evidence)
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Gene: prdm6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1508 PRDM6 Zornitza Stark reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Patent ductus arteriosus 3 - MIM#617039; Mode of inheritance: None
Fetal anomalies v0.1508 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Fetal anomalies v0.1508 FAM126A Zornitza Stark Gene: fam126a has been classified as Green List (High Evidence).
Fetal anomalies v0.1508 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 5 to Leukodystrophy, hypomyelinating, 5 MIM#610532
Fetal anomalies v0.1507 FAM126A Zornitza Stark Publications for gene: FAM126A were set to
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Fetal anomalies v0.1505 NKX2-6 Zornitza Stark Classified gene: NKX2-6 as Amber List (moderate evidence)
Fetal anomalies v0.1505 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1504 NKX2-6 Zornitza Stark reviewed gene: NKX2-6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1504 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Fetal anomalies v0.1504 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1504 KRT74 Zornitza Stark Phenotypes for gene: KRT74 were changed from HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 to Woolly hair, autosomal dominant (MIM#194300)
Fetal anomalies v0.1503 KRT74 Zornitza Stark Publications for gene: KRT74 were set to
Fetal anomalies v0.1502 KRT74 Zornitza Stark Mode of inheritance for gene: KRT74 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1501 KRT74 Zornitza Stark Classified gene: KRT74 as Red List (low evidence)
Fetal anomalies v0.1501 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1500 FAH Zornitza Stark Marked gene: FAH as ready
Fetal anomalies v0.1500 FAH Zornitza Stark Gene: fah has been classified as Red List (Low Evidence).
Fetal anomalies v0.1500 YY1 Alison Yeung Marked gene: YY1 as ready
Fetal anomalies v0.1500 YY1 Alison Yeung Gene: yy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1500 FAH Zornitza Stark Phenotypes for gene: FAH were changed from TYROSINEMIA TYPE 1 to Tyrosinemia, type I, MIM#276700
Fetal anomalies v0.1499 FAH Zornitza Stark Publications for gene: FAH were set to
Fetal anomalies v0.1499 YY1 Alison Yeung Phenotypes for gene: YY1 were changed from INTELLECTUAL DISABILITY to Gabriele-de Vries syndrome, OMIM #617557
Fetal anomalies v0.1498 FAH Zornitza Stark Classified gene: FAH as Red List (low evidence)
Fetal anomalies v0.1498 FAH Zornitza Stark Gene: fah has been classified as Red List (Low Evidence).
Fetal anomalies v0.1497 YY1 Alison Yeung Mode of inheritance for gene: YY1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1496 FAH Zornitza Stark reviewed gene: FAH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1496 YY1 Alison Yeung reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Green List (high evidence)
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Marked gene: KCNJ8 as ready
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Mode of inheritance for gene: KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10312 YY1 Alison Yeung reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1494 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Green List (high evidence)
Fetal anomalies v0.1494 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1493 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Fetal anomalies v0.1493 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1493 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Fetal anomalies v0.1493 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1491 MESP1 Zornitza Stark Marked gene: MESP1 as ready
Fetal anomalies v0.1491 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1491 MESP1 Zornitza Stark Classified gene: MESP1 as Amber List (moderate evidence)
Fetal anomalies v0.1491 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Classified gene: HSPA9 as Green List (high evidence)
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1489 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1489 FOXH1 Zornitza Stark reviewed gene: FOXH1: Rating: RED; Mode of pathogenicity: None; Publications: 32003456; Phenotypes: Congenital heart disease; Mode of inheritance: None
Mendeliome v0.10312 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091, 33819415; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Green List (high evidence)
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Fetal anomalies v0.1488 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Fetal anomalies v0.1488 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Publications for gene: CITED2 were set to 11694877; 16287139
Fetal anomalies v0.1487 CITED2 Zornitza Stark Classified gene: CITED2 as Green List (high evidence)
Fetal anomalies v0.1487 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1486 CITED2 Zornitza Stark reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: None
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1485 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1485 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Fetal anomalies v0.1485 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1485 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis 259720 to Osteopetrosis, autosomal recessive 5 (MIM#259720)
Fetal anomalies v0.1484 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Fetal anomalies v0.1483 OCLN Zornitza Stark Marked gene: OCLN as ready
Fetal anomalies v0.1483 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Fetal anomalies v0.1483 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 to Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486)
Fetal anomalies v0.1482 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Fetal anomalies v0.1481 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Fetal anomalies v0.1481 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1481 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Pseudo-TORCH syndrome 1 (MIM#251290)
Fetal anomalies v0.1480 OCLN Zornitza Stark Publications for gene: OCLN were set to
Fetal anomalies v0.1479 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M SYNDROME 2 to 3-M syndrome 2 (MIM#612921)
Polydactyly v0.243 GLI1 Ain Roesley gene: GLI1 was added
gene: GLI1 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: GLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLI1 were set to 34721536; 31621941; 31549748; 30620395
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400
Penetrance for gene: GLI1 were set to unknown
Review for gene: GLI1 was set to GREEN
gene: GLI1 was marked as current diagnostic
Added comment: >10 unrelated probands reported, both AD and AR reported
Sources: Literature
Fetal anomalies v0.1478 OBSL1 Zornitza Stark Publications for gene: OBSL1 were set to
Fetal anomalies v0.1477 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Fetal anomalies v0.1477 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1477 GLI1 Ain Roesley reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34721536, 31621941, 31549748, 30620395; Phenotypes: Polydactyly, postaxial, type A8 MIM#618123, Polydactyly, preaxial I MIM#174400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1477 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Fetal anomalies v0.1477 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mendeliome v0.10312 GLI1 Ain Roesley gene: GLI1 was added
gene: GLI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLI1 were set to 34721536; 31621941; 31549748; 30620395
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400
Penetrance for gene: GLI1 were set to unknown
Review for gene: GLI1 was set to GREEN
gene: GLI1 was marked as current diagnostic
Added comment: >10 unrelated probands reported, both AD and AR reported
Sources: Literature
Fetal anomalies v0.1477 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)
Fetal anomalies v0.1476 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Fetal anomalies v0.1475 NR5A1 Zornitza Stark Marked gene: NR5A1 as ready
Fetal anomalies v0.1475 NR5A1 Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1475 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200 to 46XY sex reversal 2, dosage-sensitive MIM#300018
Fetal anomalies v0.1474 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Fetal anomalies v0.1473 NR5A1 Zornitza Stark Phenotypes for gene: NR5A1 were changed from SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3 to 46, XX sex reversal 4 (MIM#617480); 46XY sex reversal 3 (MIM#612965)
Fetal anomalies v0.1472 NR5A1 Zornitza Stark Publications for gene: NR5A1 were set to
Fetal anomalies v0.1471 NR5A1 Zornitza Stark Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1470 NR0B1 Zornitza Stark Classified gene: NR0B1 as Amber List (moderate evidence)
Fetal anomalies v0.1470 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1469 NR0B1 Zornitza Stark Tag SV/CNV tag was added to gene: NR0B1.
Mendeliome v0.10312 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117, 33020172; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 GATA3 Ain Roesley reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663634; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GANAB Ain Roesley reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259053, 33097077; Phenotypes: Polycystic kidney disease 3 MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GABRB2 Ain Roesley reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 27789573, 33325057; Phenotypes: Developmental and epileptic encephalopathy 92 MIM#617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 ZNF699 Krithika Murali gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome - #619488
Review for gene: ZNF699 was set to GREEN
Added comment: DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding from infancy.

Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems.

Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections.
Sources: Literature, Expert list
Fetal anomalies v0.1469 ZMYM2 Krithika Murali gene: ZMYM2 was added
gene: ZMYM2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522
Review for gene: ZMYM2 was set to GREEN
Added comment: Approximately half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects
Sources: Expert list, Literature
Fetal anomalies v0.1469 UBR7 Krithika Murali gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome - MIM#619189
Review for gene: UBR7 was set to GREEN
Added comment: Biallalic variants associated with Li-Campeau syndrome - identified in 7 affected individuals from 6 unrelated families. Phenotypic features include cardiac defects (5/7 - VSD, ASD, PDA, PFO)

Other phenotypic features include: short stature (ht <3rd centile), developmental delay, urogenital anomalies (cryptorchidism, small penis); seizures; hypotonia; hypothyroidism; ptosis; dysmorphic features
Sources: Literature, Expert list
Fetal anomalies v0.1469 TLL1 Krithika Murali gene: TLL1 was added
gene: TLL1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 31570783
Phenotypes for gene: TLL1 were set to Atrial septal defect 6 - MIM#613087; congenital heart disease
Review for gene: TLL1 was set to GREEN
Added comment: Biallelic variants embryonically lethal in mouse model from cardiac failure with associated cardiac defects. Heterozygous missense variants detected in patients from an ASD cohort with supportive follow-up functional studies
Sources: Expert list, Literature
Fetal anomalies v0.1469 TBX2 Krithika Murali gene: TBX2 was added
gene: TBX2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Congenital heart disease; skeletal abnormalities; thymus aplasia
Review for gene: TBX2 was set to GREEN
Added comment: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted.

Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM58A Belinda Chong reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28225384; Phenotypes: STAR syndrome MIM#300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.1469 STK4 Krithika Murali gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868
Review for gene: STK4 was set to GREEN
Added comment: Biallelic variants identified in 12 affected individuals from 5 unrelated families with two mouse model studies. Immunodeficiencyphenotype but cardiac malformations that are potentially detectable antenatally also a typical feature.
Sources: Literature, Expert list
Fetal anomalies v0.1469 SPRED2 Krithika Murali gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to cardiac defects; skeletal anomalies
Review for gene: SPRED2 was set to GREEN
Added comment: Homozygous variants identified in four subjects from three families with a clinical phenotype that included developmental delay, ID, cardiac defects, short stature, skeletal anomalies and dysmorphic features. Cardiac defects and skeletal anomalies potentially ascertainable antenatally.
Sources: Expert list, Literature
Fetal anomalies v0.1469 SPEN Krithika Murali gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome - MIM#619312
Review for gene: SPEN was set to GREEN
Added comment: Radio et al. (2021) reported heterozygous SPEN variants in 34 individuals from 33 unrelated families with had global developmental delay, ID, behavioural issues and dysmorphic features. Other features included hypotonia, gait imbalance, pyramidal signs and seizures.

Findings potentially ascertainable antenatally:
- Brain imaging abnormalities include polymicrogyria, heterotopia, cerebellar atrophy, periventricular white matter defects, agenesis of the corpus callosum, and tethered cord.
- Congenital heart defects also present in a significant proportion.
Sources: Expert list, Literature
Fetal anomalies v0.1469 SMAD6 Krithika Murali gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 27606499; 32499606
Phenotypes for gene: SMAD6 were set to Aortic valve disease 2 - MIM#614823; {Craniosynostosis 7, susceptibility to} - MIM#617439; {Radioulnar synostosis, nonsyndromic} - #179300
Review for gene: SMAD6 was set to GREEN
Added comment: Heterozygous SMAD6 variants have been reported with:
congenital cardiovascular malformations including valvular disease
radioulnar synostosis
craniosynostosis (penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function)
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM20C Belinda Chong reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 20825432, 17924334; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 ROBO4 Krithika Murali gene: ROBO4 was added
gene: ROBO4 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to Aortic valve disease 3- MIM#618496
Review for gene: ROBO4 was set to GREEN
Added comment: Heterozygous variants identified in individuals from 2 unrelated families with bicuspid aortic valve and aortic dilatation. Supportive functional data. Incomplete penetrance also a feature.
Sources: Literature, Expert list
Fetal anomalies v0.1469 PRKACB Krithika Murali gene: PRKACB was added
gene: PRKACB was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2 - MIM#619143
Review for gene: PRKACB was set to GREEN
Added comment: Heterozygous variants reported in 4 unrelated probands with Cardioacrofacial dysplasia-2 (CAFD2) - characterized by congenital cardiac defects (atrium or atrioventricular septal defect mainly); limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly); and dysmorphic facial features. Developmental delay of variable severity has also been observed
Sources: Literature, Expert list
Fetal anomalies v0.1469 PRKACA Krithika Murali gene: PRKACA was added
gene: PRKACA was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759
Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1-MIM#619142
Review for gene: PRKACA was set to GREEN
Added comment: Heterozygous variants were identified in affected individuals from 3 unrelated families and associated with cardioacrofacial dysplasia-1 (CAFD1). Phenotype includes congenital cardiac defects (mainly atrium or atrioventricular septal defect), limb anomalies (short limbs, brachydactyly, postaxial polydactyly) and dysmorphic facial features. Fetal phenotype also reported.
Sources: Expert list, Literature
Fetal anomalies v0.1469 FAM20A Belinda Chong reviewed gene: FAM20A: Rating: RED; Mode of pathogenicity: None; Publications: 23468644, 18597613, 21549343, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 LINS1 Daniel Flanagan reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23773660, 21937992, 32499722, 28181389; Phenotypes: Mental retardation, autosomal recessive 27 (MIM#614340), autosomal recessive intellectual disability (MIM#614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1469 PRDM6 Krithika Murali gene: PRDM6 was added
gene: PRDM6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM6 were set to 27181681
Phenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 - MIM#617039
Review for gene: PRDM6 was set to GREEN
Added comment: In 3 unrelated families segregating autosomal dominant nonsyndromic patent ductus arteriosus - usually diagnosed in the neonate
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM126A Belinda Chong reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 NKX2-6 Krithika Murali Deleted their comment
Fetal anomalies v0.1469 NKX2-6 Krithika Murali edited their review of gene: NKX2-6: Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations, persistent truncus arteriosus and athymia; Changed phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095
Fetal anomalies v0.1469 NKX2-6 Krithika Murali gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 24421281; 15649947
Review for gene: NKX2-6 was set to GREEN
Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations and athymia
Sources: Literature, Expert list
Fetal anomalies v0.1469 KRT74 Daniel Flanagan reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: 21188418; Phenotypes: Woolly hair, autosomal dominant (MIM#194300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1469 FAH Belinda Chong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15759101; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 MYBPC3 Krithika Murali gene: MYBPC3 was added
gene: MYBPC3 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 16679492; 17937428; 19858127
Phenotypes for gene: MYBPC3 were set to Neonatal hypertrophic cardiomyopathy; Cardiomyopathy, hypertrophic, 4 - MIM#115197
Review for gene: MYBPC3 was set to GREEN
Added comment: 16679492 - two unrelated neonates with severe hypertrophic cardiomyopathy caused by compound heterozygous truncating mutations in the MYBPC3 gene (no antenatal findings reported)

17937428 - 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene, diagnosed in the first 3 weeks of life, surviving individuals required cardiac transplant before age 1

19858127 - infant with fatal cardiomyopathy and skeletal myopathy due to a homozygous mutation, p.R943X
Sources: Literature, Expert list
Fetal anomalies v0.1469 KCNJ8 Daniel Flanagan reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Fetal anomalies v0.1469 MMP15 Krithika Murali gene: MMP15 was added
gene: MMP15 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Gene reviewed Dec 2021 - 3 individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature, Expert list
Fetal anomalies v0.1469 MIB1 Krithika Murali gene: MIB1 was added
gene: MIB1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIB1 were set to 33057194
Phenotypes for gene: MIB1 were set to Congenital heart disease
Review for gene: MIB1 was set to AMBER
Added comment: Last reviewed March and Dec 2021 - no additional evidence

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert list, Literature
Fetal anomalies v0.1469 MESP1 Krithika Murali gene: MESP1 was added
gene: MESP1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203
Phenotypes for gene: MESP1 were set to Congenital heart disease
Review for gene: MESP1 was set to AMBER
Added comment: Gene last reviewed April 2021 - Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development.

No additional published evidence.
Sources: Literature, Expert list
Fetal anomalies v0.1469 HSPA9 Krithika Murali gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452; 26491070
Phenotypes for gene: HSPA9 were set to Even-plus syndrome - MIM#616854; Anemia, sideroblastic, 4- #182170
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosum
4/5 with congenital heart disease

Biallelic variants also associated with congenital sideroblastic anaemia. Some patients with a a heterozygous LoF variant have developed congenital sideroblastic anaemia if a particular SNP is presence in trans correlating with reduced mRNA expression (pseudodominant pattern of inheritance)
Sources: Literature, Expert list
Fetal anomalies v0.1469 HAND2 Krithika Murali gene: HAND2 was added
gene: HAND2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HAND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAND2 were set to 26865696; 32134193; 26676105
Phenotypes for gene: HAND2 were set to Congenital heart defects
Review for gene: HAND2 was set to GREEN
Added comment: Heterozygous LoF variants associated with congenital heart defects reported in at least 3 unrelated families.
Sources: Literature, Expert list
Fetal anomalies v0.1469 HAND1 Krithika Murali gene: HAND1 was added
gene: HAND1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HAND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141
Phenotypes for gene: HAND1 were set to Congenital heart defects
Review for gene: HAND1 was set to GREEN
Added comment: Testing of hypoplastic human hearts (18276607) and those with septatation defects (19586923) demonstrated impairment in HAND1 function

Germline LoF variants associated with congenital heart defects
Sources: Literature, Expert list
Fetal anomalies v0.1469 GATA5 Krithika Murali gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: GATA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5 - #617912
Review for gene: GATA5 was set to GREEN
Added comment: Heterozygous variants asociated with multiple types of congenital heart defects (septal defects, ToF). Autosomal recessive inheritance also reported in a patient with double outflow right ventricle in a consanguineous Lebanese family
Sources: Literature, Expert list
Fetal anomalies v0.1469 FOXH1 Krithika Murali gene: FOXH1 was added
gene: FOXH1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXH1 were set to 19933292; 18538293; 19525021
Phenotypes for gene: FOXH1 were set to Congenital heart disease; holoprosencephaly
Review for gene: FOXH1 was set to GREEN
Added comment: Associated with congenital heart defects (including septal defects, tetralogy of fallot and transposition of the great arteries) as well as holoprosencephaly with supportive functional studies.
Sources: Expert list, Literature
Fetal anomalies v0.1469 FBRSL1 Krithika Murali gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to Congenital malformations; congenital heart defect
Review for gene: FBRSL1 was set to GREEN
Added comment: Associated with novel malformation and intellectual disability syndrome. Three unrelated children with de novo PTCs that escape NMD, with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations - 2/3 had heart defects (ASD, VSD), cleft palate and hearing impairement. Supported by Xenopus oocyte functional studies
Sources: Literature
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Phenotypes for gene: AKR1D1 were changed from BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 to Bile acid synthesis defect, congenital, 2, MIM# 235555
Fetal anomalies v0.1468 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to
Fetal anomalies v0.1467 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: RED; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1467 AK2 Zornitza Stark Marked gene: AK2 as ready
Fetal anomalies v0.1467 AK2 Zornitza Stark Gene: ak2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1467 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from RETICULAR DYSGENESIS to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Fetal anomalies v0.1466 AK2 Zornitza Stark Publications for gene: AK2 were set to
Fetal anomalies v0.1465 AK2 Zornitza Stark reviewed gene: AK2: Rating: RED; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1465 AIRE Zornitza Stark Marked gene: AIRE as ready
Fetal anomalies v0.1465 AIRE Zornitza Stark Gene: aire has been classified as Red List (Low Evidence).
Fetal anomalies v0.1465 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Fetal anomalies v0.1464 AIRE Zornitza Stark reviewed gene: AIRE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1464 CITED2 Krithika Murali gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 11694877; 16287139
Phenotypes for gene: CITED2 were set to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431; Congenital heart disease
Review for gene: CITED2 was set to GREEN
Added comment: Variants associated with congenital heart defects. Supportive functional evidence and animal models
Sources: Literature
Fetal anomalies v0.1464 BMPR2 Krithika Murali gene: BMPR2 was added
gene: BMPR2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 31382961
Phenotypes for gene: BMPR2 were set to Persistent pulmonary hypertension of the neonate; Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600; Pulmonary venoocclusive disease 1-#265450
Penetrance for gene: BMPR2 were set to Incomplete
Review for gene: BMPR2 was set to AMBER
Added comment: BMPR2 gene variants known to be associated with sporadic/familial pulmonary hypertension and pulmonary venoocclusive disease. Fetal phenotype not reported but known to be associated with persistent pulmonary hypertension of the neonate - critical condition diagnosed in the early postnatal period.
Sources: Literature
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Marked gene: ADAMTS2 as ready
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Gene: adamts2 has been classified as Green List (High Evidence).
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Mendeliome v0.10311 ADAMTS2 Zornitza Stark Publications for gene: ADAMTS2 were set to
Mendeliome v0.10310 ADAMTS2 Zornitza Stark Mode of inheritance for gene: ADAMTS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10309 ADAMTS2 Zornitza Stark reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from LEBER CONGENITAL AMAUROSIS 4 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Fetal anomalies v0.1463 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Fetal anomalies v0.1462 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10309 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Fetal anomalies v0.1461 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: RED; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10308 AIPL1 Zornitza Stark edited their review of gene: AIPL1: Changed phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393
Fetal anomalies v0.1461 AGXT Zornitza Stark Marked gene: AGXT as ready
Fetal anomalies v0.1461 AGXT Zornitza Stark Gene: agxt has been classified as Red List (Low Evidence).
Fetal anomalies v0.1461 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from HYPEROXALURIA, PRIMARY, TYPE 1 to Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823
Fetal anomalies v0.1460 AGXT Zornitza Stark Publications for gene: AGXT were set to
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Classified gene: GATA2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.109 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21670465; 21242295; 21892158
Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Review for gene: GATA2 was set to GREEN
Added comment: 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': gene included in this panel for this association (likely represents continuum rather than distinct disorder).

Over 20 unrelated individuals reported.
Sources: Expert Review
Fatty Acid Oxidation Defects v1.7 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fatty Acid Oxidation Defects v1.6 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fetal anomalies v0.1459 AGXT Zornitza Stark reviewed gene: AGXT: Rating: RED; Mode of pathogenicity: None; Publications: 2039493, 19479957; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1459 AGRN Zornitza Stark Marked gene: AGRN as ready
Fetal anomalies v0.1459 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1459 AGRN Zornitza Stark Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence (FADS)
Fetal anomalies v0.1458 AGRN Zornitza Stark Classified gene: AGRN as Amber List (moderate evidence)
Fetal anomalies v0.1458 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from Lipodystrophy 608594 to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Fetal anomalies v0.1456 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 22902344
Fetal anomalies v0.1455 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1455 AGA Zornitza Stark edited their review of gene: AGA: Changed publications: 1703489, 1904874, 8064811, 8946839
Fetal anomalies v0.1455 AGA Zornitza Stark Marked gene: AGA as ready
Fetal anomalies v0.1455 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Fetal anomalies v0.1455 AGA Zornitza Stark Publications for gene: AGA were set to
Mendeliome v0.10308 AGA Zornitza Stark changed review comment from: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; to: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive ID. Multiple families and mouse model.
Fetal anomalies v0.1454 AGA Zornitza Stark Phenotypes for gene: AGA were changed from ASPARTYLGLUCOSAMINURIA to Aspartylglucosaminuria, MIM#208400
Fetal anomalies v0.1453 AGA Zornitza Stark changed review comment from: Intellectual disability is a prominent feature of this metabolic disorder.; to: Progressive metabolic disorder with features becoming more prominent over time.
Fetal anomalies v0.1453 AGA Zornitza Stark edited their review of gene: AGA: Changed rating: RED
Fetal anomalies v0.1453 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1453 AFF2 Zornitza Stark Marked gene: AFF2 as ready
Fetal anomalies v0.1453 AFF2 Zornitza Stark Gene: aff2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1453 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from FRAGILE X-E MENTAL RETARDATION SYNDROME to Mental retardation, X-linked, FRAXE type 309548
Fetal anomalies v0.1452 AFF2 Zornitza Stark Publications for gene: AFF2 were set to
Fetal anomalies v0.1451 AFF2 Zornitza Stark Tag SV/CNV tag was added to gene: AFF2.
Tag STR tag was added to gene: AFF2.
Fetal anomalies v0.1451 AFF2 Zornitza Stark changed review comment from: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.; to: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.

Congenital anomalies are not a prominent feature of this disorder.
Fetal anomalies v0.1451 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed rating: RED
Fetal anomalies v0.1451 ADA Zornitza Stark Marked gene: ADA as ready
Fetal anomalies v0.1451 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Fetal anomalies v0.1451 ADA Zornitza Stark Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Fetal anomalies v0.1450 ADA Zornitza Stark edited their review of gene: ADA: Changed phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
Fetal anomalies v0.1450 ADA Zornitza Stark reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 OSTM1 Daniel Flanagan reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Fetal anomalies v0.1449 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Fetal anomalies v0.1448 ACVRL1 Zornitza Stark Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1447 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Fetal anomalies v0.1447 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.; to: There is debate about when AVMs form and whether they are congenital or not. However, neonatal presentations reported, and at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN; Changed publications: 32170914, 26126400, 21988128
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: Typically presents post-natally.; to: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: AMBER; Changed publications: 32170914, 26126400
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fatty Acid Oxidation Defects v1.5 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Mendeliome v0.10308 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mendeliome v0.10308 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v1.5 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Mendeliome v0.10308 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Mendeliome v0.10307 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10306 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ACAT1 Zornitza Stark changed review comment from: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.; to: Primarily manifests as metabolic decompensation post-natally.
Fetal anomalies v0.1446 ACAT1 Zornitza Stark edited their review of gene: ACAT1: Changed rating: RED
Fatty Acid Oxidation Defects v1.4 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mendeliome v0.10306 ACADS Zornitza Stark Marked gene: ACADS as ready
Mendeliome v0.10306 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Mendeliome v0.10306 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mendeliome v0.10305 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Mendeliome v0.10304 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ACADS Zornitza Stark reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADM Zornitza Stark Marked gene: ACADM as ready
Mendeliome v0.10303 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Mendeliome v0.10303 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Mendeliome v0.10302 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10301 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ACADM Zornitza Stark reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from ADRENOLEUKODYSTROPHY, X-LINKED to Adrenoleukodystrophy, MIM# 300100
Fetal anomalies v0.1445 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 OPHN1 Daniel Flanagan reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial 256450 to Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857
Fetal anomalies v0.1444 ABCC8 Zornitza Stark Mode of inheritance for gene: ABCC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1443 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from ANEMIA, SIDEROBLASTIC, WITH ATAXIA to Anaemia, sideroblastic, with ataxia, MIM# 301310
Fetal anomalies v0.1442 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from ABCB11-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Fetal anomalies v0.1441 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1441 DCDC2 Zornitza Stark changed review comment from: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).; to: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).

Most reports are of neonatal cholangitis.
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY to Nephronophthisis 19, MIM# 616217
Fetal anomalies v0.1440 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1439 OCLN Daniel Flanagan reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1 (MIM#251290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Fetal anomalies v0.1438 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
Fetal anomalies v0.1438 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1437 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 OBSL1 Daniel Flanagan reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NUBPL Daniel Flanagan reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982452; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NR5A1 Daniel Flanagan reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: 46, XX sex reversal 4 (MIM#617480), 46XY sex reversal 3 (MIM#612965); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan Deleted their review
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Skeletal dysplasia v0.145 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Skeletal dysplasia v0.144 CYP26B1 Zornitza Stark Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.143 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Skeletal dysplasia v0.143 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.142 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10301 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Mendeliome v0.10301 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Mendeliome v0.10301 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Mendeliome v0.10300 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Mendeliome v0.10299 CYP26B1 Zornitza Stark Mode of inheritance for gene: CYP26B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10298 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.29 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Fetal anomalies v0.1436 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Fetal anomalies v0.1435 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Fetal anomalies v0.1435 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1434 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE to Methaemoglobinemia, type II, MIM# 250800
Fetal anomalies v0.1433 CYB5R3 Zornitza Stark reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Methaemoglobinemia, type II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1433 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Fetal anomalies v0.1433 CUX2 Zornitza Stark Gene: cux2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1433 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from Developmental epileptic encephalopathy to Epileptic encephalopathy, early infantile, 67, MIM#618141
Fetal anomalies v0.1432 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Fetal anomalies v0.1431 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1430 CUX2 Zornitza Stark Classified gene: CUX2 as Red List (low evidence)
Fetal anomalies v0.1430 CUX2 Zornitza Stark Gene: cux2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1429 CUX2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1429 CUX2 Zornitza Stark edited their review of gene: CUX2: Added comment: Onset in infancy but congenital abnormalities are not a feature.; Changed rating: RED
Mendeliome v0.10298 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Mendeliome v0.10298 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Mendeliome v0.10298 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Mendeliome v0.10297 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Mendeliome v0.10296 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10295 CTU2 Zornitza Stark reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27480277, 26633546, 31301155; Phenotypes: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1429 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Fetal anomalies v0.1428 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Fetal anomalies v0.1427 CTU2 Zornitza Stark Classified gene: CTU2 as Green List (high evidence)
Fetal anomalies v0.1427 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Marked gene: CTNND1 as ready
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Phenotypes for gene: CTNND1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 2, MIM# 617681
Fetal anomalies v0.1425 CTNND1 Zornitza Stark Publications for gene: CTNND1 were set to
Fetal anomalies v0.1424 CTNND1 Zornitza Stark Classified gene: CTNND1 as Green List (high evidence)
Fetal anomalies v0.1424 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CTNND1 Zornitza Stark changed review comment from: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues. Unclear from description whether significant ID present.
Sources: Literature; to: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues.
Sources: Literature
Fetal anomalies v0.1423 CTNND1 Zornitza Stark edited their review of gene: CTNND1: Changed rating: GREEN
Fetal anomalies v0.1423 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CHRNE Zornitza Stark Classified gene: CHRNE as Green List (high evidence)
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CHRNE Zornitza Stark changed review comment from: Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.; to: Well established association with congenital myasthenia, some individuals reported with arthrogryposis.
Fetal anomalies v0.1422 CHRNE Zornitza Stark edited their review of gene: CHRNE: Changed rating: GREEN
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Mendeliome v0.10295 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Mendeliome v0.10295 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Mendeliome v0.10295 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Mendeliome v0.10294 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to
Mendeliome v0.10293 CTDP1 Zornitza Stark Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10292 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Tag founder tag was added to gene: CTDP1.
Mendeliome v0.10292 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14517542, 24690360, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Fetal anomalies v0.1421 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Tag founder tag was added to gene: CTDP1.
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Classified gene: CTDP1 as Green List (high evidence)
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1419 CSTA Zornitza Stark Marked gene: CSTA as ready
Fetal anomalies v0.1419 CSTA Zornitza Stark Gene: csta has been classified as Red List (Low Evidence).
Fetal anomalies v0.1419 CSTA Zornitza Stark Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE to Peeling skin syndrome 4, MIM# 607936
Fetal anomalies v0.1418 CSTA Zornitza Stark Classified gene: CSTA as Red List (low evidence)
Fetal anomalies v0.1418 CSTA Zornitza Stark Gene: csta has been classified as Red List (Low Evidence).
Fetal anomalies v0.1417 CSTA Zornitza Stark reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 4, MIM# 607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1417 CRIPT Zornitza Stark Marked gene: CRIPT as ready
Fetal anomalies v0.1417 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1417 CRIPT Zornitza Stark Publications for gene: CRIPT were set to
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Fetal anomalies v0.1415 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Fetal anomalies v0.1414 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10292 CRELD1 Zornitza Stark Classified gene: CRELD1 as Amber List (moderate evidence)
Mendeliome v0.10292 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10291 CRELD1 Zornitza Stark commented on gene: CRELD1: Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.
Mendeliome v0.10291 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: AMBER
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Fetal anomalies v0.1412 CREB3L1 Zornitza Stark Classified gene: CREB3L1 as Green List (high evidence)
Fetal anomalies v0.1412 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1411 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1411 CRADD Zornitza Stark Marked gene: CRADD as ready
Fetal anomalies v0.1411 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Fetal anomalies v0.1411 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Fetal anomalies v0.1410 CRADD Zornitza Stark Publications for gene: CRADD were set to
Fetal anomalies v0.1409 CRADD Zornitza Stark Classified gene: CRADD as Green List (high evidence)
Fetal anomalies v0.1409 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Fetal anomalies v0.1408 HHAT Zornitza Stark Marked gene: HHAT as ready
Fetal anomalies v0.1408 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Fetal anomalies v0.1408 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Fetal anomalies v0.1408 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Fetal anomalies v0.1407 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300; 33749989
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to GREEN
Added comment: Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, micromelia, and sex reversal.
Sources: Expert Review
Skeletal dysplasia v0.142 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Skeletal dysplasia v0.141 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Skeletal dysplasia v0.141 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal dysplasia v0.140 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989; Changed phenotypes: Nivelon-Nivelon-Mabille syndrome 600092
Microcephaly v1.86 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Microcephaly v1.85 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Microcephaly v1.85 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Microcephaly v1.84 HHAT Zornitza Stark commented on gene: HHAT: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.
Microcephaly v1.84 HHAT Zornitza Stark edited their review of gene: HHAT: Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Cerebellar and Pontocerebellar Hypoplasia v1.23 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Cerebellar and Pontocerebellar Hypoplasia v1.22 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.22 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.21 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Mendeliome v0.10291 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Mendeliome v0.10291 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Mendeliome v0.10290 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 SPIDR Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 SPIDR Zornitza Stark reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10290 SPIDR Zornitza Stark Marked gene: SPIDR as ready
Mendeliome v0.10290 SPIDR Zornitza Stark Gene: spidr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10290 SPIDR Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Mendeliome v0.10289 SPIDR Zornitza Stark reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10289 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Mendeliome v0.10288 KIF12 Zornitza Stark edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Cholestasis v0.214 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis, progressive familial intrahepatic, 8 619662 to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Cholestasis v0.213 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8 619662
Cholestasis v0.212 KIF12 Zornitza Stark edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Liver Failure_Paediatric v1.9 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068
Liver Failure_Paediatric v1.8 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting disorders v0.161 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726 to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, MIM# 301068
Clefting disorders v0.160 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Syndromic Retinopathy v0.183 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068
Syndromic Retinopathy v0.182 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10288 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
Mendeliome v0.10287 MED12 Zornitza Stark edited their review of gene: MED12: Changed phenotypes: Hardikar syndrome, MIM# 301068
Intellectual disability syndromic and non-syndromic v0.4381 TNR Zornitza Stark Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Intellectual disability syndromic and non-syndromic v0.4380 TNR Zornitza Stark edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus
Mendeliome v0.10287 TNR Zornitza Stark Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Mendeliome v0.10286 TNR Zornitza Stark edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus
Cerebral Palsy v1.20 TNR Zornitza Stark Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Cerebral Palsy v1.19 TNR Zornitza Stark edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus
Mendeliome v0.10286 HHAT Eleanor Williams commented on gene: HHAT
Mendeliome v0.10286 CTSB Zornitza Stark Marked gene: CTSB as ready
Mendeliome v0.10286 CTSB Zornitza Stark Gene: ctsb has been classified as Red List (Low Evidence).
Mendeliome v0.10286 CTSB Zornitza Stark Phenotypes for gene: CTSB were changed from to Keratolytic winter erythema, MIM# 148370
Mendeliome v0.10285 CTSB Zornitza Stark Publications for gene: CTSB were set to
Mendeliome v0.10284 CTSB Zornitza Stark Mode of inheritance for gene: CTSB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10283 CTSB Zornitza Stark Classified gene: CTSB as Red List (low evidence)
Mendeliome v0.10283 CTSB Zornitza Stark Gene: ctsb has been classified as Red List (Low Evidence).
Mendeliome v0.10282 CTSB Zornitza Stark Tag SV/CNV tag was added to gene: CTSB.
Mendeliome v0.10282 CTSB Zornitza Stark reviewed gene: CTSB: Rating: RED; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema, MIM# 148370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.172 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from Early childhood SSNS to Nephrotic syndrome
Mendeliome v0.10282 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from 29773874 to Nephrotic syndrome
Mendeliome v0.10281 ITSN1 Zornitza Stark Publications for gene: ITSN1 were set to
Mendeliome v0.10280 ITSN1 Zornitza Stark edited their review of gene: ITSN1: Changed publications: 29773874; Changed phenotypes: Nephrotic syndrome
Mendeliome v0.10280 MSR1 Zornitza Stark Marked gene: MSR1 as ready
Mendeliome v0.10280 MSR1 Zornitza Stark Gene: msr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10280 MSR1 Zornitza Stark Phenotypes for gene: MSR1 were changed from to Barrett esophagus/esophageal adenocarcinoma, MIM# 614266
Mendeliome v0.10279 MSR1 Zornitza Stark Publications for gene: MSR1 were set to
Mendeliome v0.10278 MSR1 Zornitza Stark Mode of inheritance for gene: MSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10277 MSR1 Zornitza Stark Classified gene: MSR1 as Red List (low evidence)
Mendeliome v0.10277 MSR1 Zornitza Stark Gene: msr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10276 MSR1 Zornitza Stark reviewed gene: MSR1: Rating: RED; Mode of pathogenicity: None; Publications: 12958598, 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma, MIM# 614266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10276 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Mendeliome v0.10276 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Mendeliome v0.10276 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8, MIM# 617319
Mendeliome v0.10275 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.10274 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, MIM# 617319
Fetal anomalies v0.1405 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Fetal anomalies v0.1404 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Fetal anomalies v0.1404 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1403 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1403 COLQ Zornitza Stark Marked gene: COLQ as ready
Fetal anomalies v0.1403 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Fetal anomalies v0.1403 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, MIM#603034
Fetal anomalies v0.1402 COLQ Zornitza Stark Publications for gene: COLQ were set to 9689136; 11865139
Fetal anomalies v0.1401 COLQ Zornitza Stark Classified gene: COLQ as Red List (low evidence)
Fetal anomalies v0.1401 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Fetal anomalies v0.1400 COLQ Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.; to: Well established gene-disease association, more than 10 families reported. However, contractures not reported, and variable age of onset/progression.
Fetal anomalies v0.1400 COLQ Zornitza Stark edited their review of gene: COLQ: Changed rating: RED
Cholestasis v0.212 USP53 Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521
Cholestasis v0.211 USP53 Zornitza Stark changed review comment from: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature
Cholestasis v0.211 USP53 Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013
Mendeliome v0.10273 USP53 Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521
Mendeliome v0.10272 USP53 Zornitza Stark changed review comment from: Another 7 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). One individual had deafness.; to: Another 11 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). Childhood-onset deafness reported in two families.
Mendeliome v0.10272 USP53 Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Marked gene: USP53 as ready
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Classified gene: USP53 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.107 USP53 Zornitza Stark changed review comment from: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.107 USP53 Zornitza Stark gene: USP53 was added
gene: USP53 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to 30250217; 32124521; 33075013
Phenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Review for gene: USP53 was set to AMBER
Added comment: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Cholestasis v0.211 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Mendeliome v0.10272 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Mendeliome v0.10271 USP53 Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 619658
Cholestasis v0.210 USP53 Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from FACIAL PARESIS, HEREDITARY CONGENITAL, 3 to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Fetal anomalies v0.1399 HOXB1 Zornitza Stark Publications for gene: HOXB1 were set to
Fetal anomalies v0.1398 HOXB1 Zornitza Stark Classified gene: HOXB1 as Red List (low evidence)
Fetal anomalies v0.1398 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1397 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: RED; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744, MONDO:0013880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10271 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
Mendeliome v0.10271 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Green List (High Evidence).
Mendeliome v0.10271 HOXB1 Zornitza Stark Publications for gene: HOXB1 were set to
Mendeliome v0.10270 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Mendeliome v0.10269 HOXB1 Zornitza Stark Mode of inheritance for gene: HOXB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10268 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Mendeliome v0.10268 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Mendeliome v0.10268 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Mendeliome v0.10268 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340
Mendeliome v0.10267 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Mendeliome v0.10266 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10265 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301481, 34740859; Phenotypes: 3MC syndrome 3, MONDO:0009554, 3MC syndrome 3, OMIM:248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Fetal anomalies v0.1396 COLEC10 Zornitza Stark Classified gene: COLEC10 as Green List (high evidence)
Fetal anomalies v0.1396 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: Cleft lip/palate are a feature.; to: Cleft lip/palate are a feature. At least 4 families reported.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark edited their review of gene: COLEC10: Changed publications: 28301481, 34740859
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: ID is not reported as a feature in molecularly confirmed cases with variants in this gene.; to: Cleft lip/palate are a feature.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark edited their review of gene: COLEC10: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4380 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Intellectual disability syndromic and non-syndromic v0.4380 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4380 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351
Intellectual disability syndromic and non-syndromic v0.4379 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Intellectual disability syndromic and non-syndromic v0.4378 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4377 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10265 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Mendeliome v0.10265 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Mendeliome v0.10265 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351
Mendeliome v0.10264 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Mendeliome v0.10263 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10262 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 34, MIM# 616351
Fetal anomalies v0.1394 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Fetal anomalies v0.1393 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1392 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Red List (low evidence)
Fetal anomalies v0.1392 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1391 COL4A3BP Zornitza Stark edited their review of gene: COL4A3BP: Changed rating: RED
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Marked gene: COL25A1 as ready
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
Fetal anomalies v0.1390 COL25A1 Zornitza Stark Publications for gene: COL25A1 were set to
Fetal anomalies v0.1389 COL25A1 Zornitza Stark Classified gene: COL25A1 as Red List (low evidence)
Fetal anomalies v0.1389 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1388 COL25A1 Zornitza Stark reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Fetal anomalies v0.1387 COL13A1 Zornitza Stark Classified gene: COL13A1 as Green List (high evidence)
Fetal anomalies v0.1387 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1386 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.118 MIB1 Zornitza Stark Publications for gene: MIB1 were set to
Cardiomyopathy_Paediatric v0.117 MIB1 Zornitza Stark Classified gene: MIB1 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.117 MIB1 Zornitza Stark Gene: mib1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.116 MIB1 Zornitza Stark edited their review of gene: MIB1: Changed rating: RED
Congenital Heart Defect v0.164 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Congenital Heart Defect v0.164 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.163 MIB1 Zornitza Stark changed review comment from: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review; to: Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review
Congenital Heart Defect v0.163 MIB1 Zornitza Stark edited their review of gene: MIB1: Changed rating: AMBER
Mendeliome v0.10262 MIB1 Zornitza Stark Publications for gene: MIB1 were set to 23314057; 30322850
Mendeliome v0.10261 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Mendeliome v0.10261 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10260 MIB1 Zornitza Stark changed review comment from: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.; to: Comment when marking as ready: RED for LVNC/cardiomyopathy. Amber for congenital heart disease.
Callosome v0.350 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Callosome v0.350 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Callosome v0.350 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337
Callosome v0.349 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Callosome v0.348 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.347 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1413 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Genetic Epilepsy v0.1413 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1413 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337
Genetic Epilepsy v0.1412 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Genetic Epilepsy v0.1411 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1410 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.84 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Microcephaly v1.84 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Microcephaly v1.84 ZBTB18 Zornitza Stark Classified gene: ZBTB18 as Green List (high evidence)
Microcephaly v1.84 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Microcephaly v1.83 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB18 were set to 29573576
Phenotypes for gene: ZBTB18 were set to Mental retardation, autosomal dominant 22, MIM# 612337
Review for gene: ZBTB18 was set to GREEN
Added comment: Van der Schoot et al. (2018) reported 4 unrelated patients with MRD22 and summarized clinical information on 21 previously reported patients. All 25 patients had developmental delay, including 7 of 17 with microcephaly, 9 of 15 with corpus callosum abnormalities, 10 of 13 with dysmorphic facial features, and 4 of 17 with seizures.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4377 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Intellectual disability syndromic and non-syndromic v0.4377 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4377 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v0.4376 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Intellectual disability syndromic and non-syndromic v0.4375 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337, Intellectual disability, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from ZBTB18 syndrome to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities
Fetal anomalies v0.1385 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Fetal anomalies v0.1384 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1383 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, MIM# 259050
Intellectual disability syndromic and non-syndromic v0.4373 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Intellectual disability syndromic and non-syndromic v0.4372 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4371 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10260 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Mendeliome v0.10260 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Mendeliome v0.10260 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, MIM# 259050
Mendeliome v0.10259 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Mendeliome v0.10258 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from PRIMROSE SYNDROME to Primrose syndrome, MIM# 259050
Fetal anomalies v0.1382 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Fetal anomalies v0.1381 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1380 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL to Diabetes mellitus, transient neonatal 1, OMIM #601410
Fetal anomalies v0.1379 ZFP57 Zornitza Stark Mode of inheritance for gene: ZFP57 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637; MONDO:0012322 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322
Fetal anomalies v0.1377 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to 20531442
Fetal anomalies v0.1375 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 5, OMIM #609637
Fetal anomalies v0.1374 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Fetal anomalies v0.1373 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 MIB1 Chern Lim changed review comment from: Luxan 2013 (PMID: 23314057):
- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets).
- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

DCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.

De Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.

Kaplanis 2021 (PMID: 33057194): Developmental disorders paper.
- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent, GeneDx), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).
- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.; to: Luxan 2013 (PMID: 23314057):
- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets).
- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

DCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.

De Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.

Kaplanis 2021 (PMID: 33057194): Developmental disorders paper.
- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).
- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.
Mendeliome v0.10257 MIB1 Chern Lim reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057, 30322850, 23033978, 33057194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZBTB18 Alison Yeung reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ZBTB18 syndrome, Intellectual disability, microcephaly, corpus callosum abnormalities, OMIM #612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 ZBTB20 Alison Yeung reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primrose syndrome OMIM # 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZFP57 Alison Yeung reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal 1, OMIM #601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1372 ZIC2 Alison Yeung reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20531442; Phenotypes: Holoprosencephaly 5, OMIM #609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Marked gene: COL12A1 as ready
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed phenotypes: Ullrich congenital muscular dystrophy 2, 616470, Bethlem myopathy 2, 616471
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Phenotypes for gene: COL12A1 were changed from ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471
Fetal anomalies v0.1371 COL12A1 Zornitza Stark Publications for gene: COL12A1 were set to
Fetal anomalies v0.1370 COL12A1 Zornitza Stark Classified gene: COL12A1 as Green List (high evidence)
Fetal anomalies v0.1370 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1369 COL12A1 Zornitza Stark reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604, 24334769, 21670218; Phenotypes: Bethlem myopathy 2, MIM# 616471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1369 COG6 Zornitza Stark Marked gene: COG6 as ready
Fetal anomalies v0.1369 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1369 COG6 Zornitza Stark Classified gene: COG6 as Green List (high evidence)
Fetal anomalies v0.1369 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1368 COG6 Zornitza Stark changed review comment from: ID is part of the phenotype.; to: IUGR and microcephaly are a feature.
Fetal anomalies v0.1368 COG5 Zornitza Stark Marked gene: COG5 as ready
Fetal anomalies v0.1368 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1368 COG5 Zornitza Stark Publications for gene: COG5 were set to
Fetal anomalies v0.1367 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Fetal anomalies v0.1367 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1366 COG5 Zornitza Stark changed review comment from: More than 5 unrelated families reported, ID is a consistent feature.; to: More than 5 unrelated families reported, microcephaly reported.
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Marked gene: ALDH1A2 as ready
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Gene: aldh1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Classified gene: ALDH1A2 as Green List (high evidence)
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Gene: aldh1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Classified gene: ADAMTS19 as Green List (high evidence)
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1364 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Fetal anomalies v0.1364 TTC12 Zornitza Stark Gene: ttc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1364 TTC12 Zornitza Stark Classified gene: TTC12 as Red List (low evidence)
Fetal anomalies v0.1364 TTC12 Zornitza Stark Gene: ttc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1363 TP73 Zornitza Stark Marked gene: TP73 as ready
Fetal anomalies v0.1363 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Fetal anomalies v0.1363 TP73 Zornitza Stark Classified gene: TP73 as Green List (high evidence)
Fetal anomalies v0.1363 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Classified gene: SPEF2 as Red List (low evidence)
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1361 ALDH1A2 Krithika Murali gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 19886994; 10192400
Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; thymus aplasia
Review for gene: ALDH1A2 was set to GREEN
Added comment: Biallellic variants in two unrelated, non-consanguineous families associated with multiple anomalies - including congenital heart disease, eventration of the diaphragm/diaphragmatic hernia, pulmonary hypoplasia dysmorphic features, thymus aplasia - a number of which were detected antenatally. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due to in utero defects in early heart morphogenesis.
Sources: Expert list, Literature
Fetal anomalies v0.1361 ADAMTS19 Krithika Murali gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 32323311; 31844321
Phenotypes for gene: ADAMTS19 were set to Heart valve disease (HVD)
Review for gene: ADAMTS19 was set to GREEN
Added comment: PMID 32323311 reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies.

Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert list, Literature
Fetal anomalies v0.1361 TTC12 Krithika Murali gene: TTC12 was added
gene: TTC12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia, primary, 45 - MIM#618801
Review for gene: TTC12 was set to RED
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Fetal anomalies v0.1361 TP73 Krithika Murali gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284; 34077761
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466
Review for gene: TP73 was set to GREEN
Added comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls.

Clinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum.
Sources: Literature
Fetal anomalies v0.1361 SPEF2 Krithika Murali gene: SPEF2 was added
gene: SPEF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to RED
Added comment: Biallelic variants associated with sperm morphological abnormalities. In some individuals recurrent sinopulmonary infections and bronchiectasis noted consistent with PCD-like phenotype. Mouse model showed infertility phenotype, hydrocephalus, sinusitis. No fetal phenotype reported.
Sources: Literature
Mendeliome v0.10257 ABO Zornitza Stark Marked gene: ABO as ready
Mendeliome v0.10257 ABO Zornitza Stark Gene: abo has been classified as Red List (Low Evidence).
Mendeliome v0.10257 ABO Zornitza Stark Phenotypes for gene: ABO were changed from to [Blood group, ABO system] MIM#616093
Mendeliome v0.10256 ABO Zornitza Stark Classified gene: ABO as Red List (low evidence)
Mendeliome v0.10256 ABO Zornitza Stark Gene: abo has been classified as Red List (Low Evidence).
Mendeliome v0.10255 TLR1 Zornitza Stark Marked gene: TLR1 as ready
Mendeliome v0.10255 TLR1 Zornitza Stark Gene: tlr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10255 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from to Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223
Mendeliome v0.10254 TLR1 Zornitza Stark Classified gene: TLR1 as Red List (low evidence)
Mendeliome v0.10254 TLR1 Zornitza Stark Gene: tlr1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.4 REL Zornitza Stark Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Combined Immunodeficiency v1.3 REL Zornitza Stark Publications for gene: REL were set to 31103457
Combined Immunodeficiency v1.2 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Combined Immunodeficiency v1.2 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.2 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Combined Immunodeficiency v1.2 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.1 REL Zornitza Stark edited their review of gene: REL: Added comment: Second unrelated individual reported, with a different homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity
Mendeliome v0.10253 REL Zornitza Stark Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Mendeliome v0.10252 REL Zornitza Stark Publications for gene: REL were set to 31103457
Mendeliome v0.10251 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Mendeliome v0.10251 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10250 REL Zornitza Stark changed review comment from: Second unrelated individual reported, homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; to: Second unrelated individual reported, with a different homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.
Mendeliome v0.10250 REL Zornitza Stark edited their review of gene: REL: Added comment: Second unrelated individual reported, homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity
Mendeliome v0.10250 ABO Paul De Fazio reviewed gene: ABO: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, ABO system] MIM#616093; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10250 TLR1 Paul De Fazio reviewed gene: TLR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10250 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Mendeliome v0.10249 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Mendeliome v0.10249 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10248 SLC26A5 Zornitza Stark commented on gene: SLC26A5: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory. This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209). Classified as LIMITED by ClinGen in 2017.
Mendeliome v0.10248 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_IsolatedAndComplex v1.106 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark changed review comment from: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.; to: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.

This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209).

Classified as LIMITED by ClinGen in 2017.
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed phenotypes: Deafness, autosomal recessive 61, MIM# 613865
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Classified gene: CNTN1 as Amber List (moderate evidence)
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1360 CNTN1 Zornitza Stark edited their review of gene: CNTN1: Changed rating: AMBER
Fetal anomalies v0.1360 CNTN1 Zornitza Stark changed review comment from: Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.; to: Single family reported, some functional data, further family recently reported as part of a cohort. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.
Fetal anomalies v0.1360 CNTN1 Zornitza Stark edited their review of gene: CNTN1: Changed publications: 32779773, 19026398
Fetal anomalies v0.1360 CNTN1 Zornitza Stark Classified gene: CNTN1 as Red List (low evidence)
Fetal anomalies v0.1360 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1359 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: RED; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from INTELLECTUAL DISABILITY WITH EPILEPSY to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Fetal anomalies v0.1358 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Fetal anomalies v0.1357 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 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)
Fetal anomalies v0.1356 CNKSR2 Zornitza Stark Classified gene: CNKSR2 as Red List (low evidence)
Fetal anomalies v0.1356 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1355 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: RED; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1355 CNBP Zornitza Stark Tag STR tag was added to gene: CNBP.
Fetal anomalies v0.1355 CNBP Zornitza Stark Marked gene: CNBP as ready
Fetal anomalies v0.1355 CNBP Zornitza Stark Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1355 CNBP Zornitza Stark Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, MIM#602668
Fetal anomalies v0.1354 CNBP Zornitza Stark Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1353 CNBP Zornitza Stark Classified gene: CNBP as Red List (low evidence)
Fetal anomalies v0.1353 CNBP Zornitza Stark Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1352 CNBP Zornitza Stark reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 2, MIM# 602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10248 SEMA7A Zornitza Stark Marked gene: SEMA7A as ready
Mendeliome v0.10248 SEMA7A Zornitza Stark Added comment: Comment when marking as ready: AMBER for PFIC. RED for other associations.
Mendeliome v0.10248 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10248 SEMA7A Zornitza Stark Phenotypes for gene: SEMA7A were changed from to Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis
Mendeliome v0.10247 SEMA7A Zornitza Stark Publications for gene: SEMA7A were set to
Mendeliome v0.10246 SEMA7A Zornitza Stark Mode of inheritance for gene: SEMA7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10245 SEMA7A Zornitza Stark Classified gene: SEMA7A as Amber List (moderate evidence)
Mendeliome v0.10245 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10244 SEMA7A Paul De Fazio edited their review of gene: SEMA7A: Changed rating: AMBER
Mendeliome v0.10244 SEMA7A Paul De Fazio changed review comment from: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.

Low evidence for association with disease.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.

Rated amber due to 1 patient and mouse model in PMID:34585848.
Mendeliome v0.10244 SEMA7A Paul De Fazio changed review comment from: There is no conclusive evidence of association with monogenic disease for this gene.

Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.

Low evidence for association with disease.
Mendeliome v0.10244 SEMA7A Paul De Fazio reviewed gene: SEMA7A: Rating: RED; Mode of pathogenicity: None; Publications: 16372136, 31650878, 34585848; Phenotypes: Decreased bone mineral density, Kallmann syndrome, progressive familial intrahepatic cholestasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1352 CLTC Zornitza Stark Mode of inheritance for gene: CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1351 CLTC Zornitza Stark Classified gene: CLTC as Red List (low evidence)
Fetal anomalies v0.1351 CLTC Zornitza Stark Gene: cltc has been classified as Red List (Low Evidence).
Fetal anomalies v0.1350 CLTC Zornitza Stark changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual. Microcephaly is acquired.
Fetal anomalies v0.1350 CLTC Zornitza Stark changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual.
Fetal anomalies v0.1350 CLTC Zornitza Stark edited their review of gene: CLTC: Changed rating: RED
Fetal anomalies v0.1350 CLPP Zornitza Stark Marked gene: CLPP as ready
Fetal anomalies v0.1350 CLPP Zornitza Stark Gene: clpp has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1350 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from PERRAULT SYNDROME to Perrault syndrome 3, MIM# 614129
Fetal anomalies v0.1349 CLPP Zornitza Stark Publications for gene: CLPP were set to
Fetal anomalies v0.1348 CLPP Zornitza Stark changed review comment from: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.

However, microcephaly reported in some.
Fetal anomalies v0.1348 CLPP Zornitza Stark edited their review of gene: CLPP: Changed rating: AMBER
Fetal anomalies v0.1348 CLPP Zornitza Stark changed review comment from: As far as I can ascertain, ID has only been reported in one consanguineous family and most affected individuals have the combination of deafness/POF.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.
Fetal anomalies v0.1348 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Fetal anomalies v0.1348 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1348 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Fetal anomalies v0.1347 CLP1 Zornitza Stark Classified gene: CLP1 as Green List (high evidence)
Fetal anomalies v0.1347 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Mendeliome v0.10244 CLMP Zornitza Stark Marked gene: CLMP as ready
Mendeliome v0.10244 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Mendeliome v0.10244 CLMP Zornitza Stark Phenotypes for gene: CLMP were changed from to Congenital short bowel syndrome , MIM#615237
Mendeliome v0.10243 CLMP Zornitza Stark Publications for gene: CLMP were set to
Mendeliome v0.10242 CLMP Zornitza Stark Mode of inheritance for gene: CLMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10241 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1346 CLMP Zornitza Stark Marked gene: CLMP as ready
Fetal anomalies v0.1346 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Fetal anomalies v0.1346 CLMP Zornitza Stark Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME to Congenital short bowel syndrome , MIM#615237
Fetal anomalies v0.1345 CLMP Zornitza Stark Publications for gene: CLMP were set to
Fetal anomalies v0.1344 CLMP Zornitza Stark Classified gene: CLMP as Green List (high evidence)
Fetal anomalies v0.1344 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Fetal anomalies v0.1343 CLMP Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, malrotation is a feature.
Fetal anomalies v0.1343 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1343 CIT Zornitza Stark Marked gene: CIT as ready
Fetal anomalies v0.1343 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Fetal anomalies v0.1343 CIT Zornitza Stark Publications for gene: CIT were set to
Fetal anomalies v0.1342 CIT Zornitza Stark Classified gene: CIT as Green List (high evidence)
Fetal anomalies v0.1342 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Fetal anomalies v0.1340 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Fetal anomalies v0.1340 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1340 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from WEAVER SYNDROME 2 to Weaver syndrome MIM#277590
Fetal anomalies v0.1339 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Fetal anomalies v0.1338 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1337 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Fetal anomalies v0.1337 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1337 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from EXOSTOSES, MULTIPLE, TYPE 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Exostoses, multiple, type 2, MIM# 133701
Fetal anomalies v0.1336 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Fetal anomalies v0.1335 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1334 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682, Exostoses, multiple, type 2, MIM# 133701; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1334 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Fetal anomalies v0.1334 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1334 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Fetal anomalies v0.1333 EXT1 Zornitza Stark Publications for gene: EXT1 were set to
Fetal anomalies v0.1332 EXT1 Zornitza Stark Mode of inheritance for gene: EXT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1331 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Fetal anomalies v0.1331 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1331 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome (MIM#225500)
Fetal anomalies v0.1330 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Fetal anomalies v0.1329 EVC Zornitza Stark Marked gene: EVC as ready
Fetal anomalies v0.1329 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Fetal anomalies v0.1329 EVC Zornitza Stark Phenotypes for gene: EVC were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome, MIM# 225500
Fetal anomalies v0.1328 EVC Zornitza Stark Publications for gene: EVC were set to
Fetal anomalies v0.1327 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Fetal anomalies v0.1327 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Fetal anomalies v0.1327 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from GLUTARIC ACIDURIA TYPE 2C to Glutaric acidemia IIC, MIM#231680
Fetal anomalies v0.1326 ETFDH Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature.
Fetal anomalies v0.1326 ETFB Zornitza Stark Marked gene: ETFB as ready
Fetal anomalies v0.1326 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Fetal anomalies v0.1326 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidaemia IIB, MIM#231680
Fetal anomalies v0.1325 ETFB Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature.
Fetal anomalies v0.1325 ETFA Zornitza Stark Marked gene: ETFA as ready
Fetal anomalies v0.1325 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Fetal anomalies v0.1325 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, MIM#231680
Fetal anomalies v0.1324 ETFA Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly a feature.
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Fetal anomalies v0.1323 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to
Mendeliome v0.10241 ERF Zornitza Stark Marked gene: ERF as ready
Mendeliome v0.10241 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Mendeliome v0.10241 ERF Zornitza Stark Phenotypes for gene: ERF were changed from to Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180
Mendeliome v0.10240 ERF Zornitza Stark Publications for gene: ERF were set to
Mendeliome v0.10239 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10238 ERF Zornitza Stark edited their review of gene: ERF: Changed phenotypes: Craniosynostosis 4, MIM# 600775, Chitayat syndrome, MIM# 617180
Mendeliome v0.10238 ERF Zornitza Stark reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354439, 26097063, 32370745, 30758909, 27738187; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1322 ERF Zornitza Stark Marked gene: ERF as ready
Fetal anomalies v0.1322 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Fetal anomalies v0.1322 ERF Zornitza Stark Phenotypes for gene: ERF were changed from Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775
Fetal anomalies v0.1321 ERF Zornitza Stark Publications for gene: ERF were set to
Fetal anomalies v0.1320 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1319 ERF Zornitza Stark changed review comment from: ID is not really part of the phenotype of either condition; mild learning difficulties described in some individuals affected by craniosynostosis 4.; to: Over 20 unrelated families reported. Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.

Variants in this gene are also associated with Chitayat syndrome, which has skeletal abnormalities as a feature.
Fetal anomalies v0.1319 ERF Zornitza Stark edited their review of gene: ERF: Changed rating: GREEN; Changed publications: 23354439, 26097063, 32370745, 30758909
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from COCKAYNE SYNDROME TYPE B; DE SANCTIS-CACCHIONE SYNDROME; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1; UV-SENSITIVE SYNDROME to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800
Fetal anomalies v0.1318 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Fetal anomalies v0.1316 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936
Fetal anomalies v0.1315 ERCC5 Zornitza Stark changed review comment from: Well established gene-disease association, spectrum of severity, with COFS having significant ID, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.; to: Well established gene-disease association, spectrum of severity, with COFS having significant IUGR, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965
Fetal anomalies v0.1314 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Fetal anomalies v0.1313 ERCC4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; to: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects, and XFE progeroid syndrome, with microcephaly a feature.
Fetal anomalies v0.1313 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108, XFE progeroid syndrome, MIM# 610965
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from FANCONI ANEMIA; CEREBROOCULOFACIOSKELETAL SYNDROME 4 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Fetal anomalies v0.1312 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Fetal anomalies v0.1311 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Fetal anomalies v0.1311 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1311 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM to Vici syndrome, MIM# 242840
Fetal anomalies v0.1310 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Mendeliome v0.10238 EOGT Zornitza Stark Marked gene: EOGT as ready
Mendeliome v0.10238 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Mendeliome v0.10238 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297
Mendeliome v0.10237 EOGT Zornitza Stark Publications for gene: EOGT were set to
Mendeliome v0.10236 EOGT Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10235 EOGT Zornitza Stark reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23522784, 31368252, 29924900, 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1309 EOGT Zornitza Stark Marked gene: EOGT as ready
Fetal anomalies v0.1309 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Fetal anomalies v0.1309 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from ADAMS OLIVER SYNDROME to Adams-Oliver syndrome 4, MIM#615297
Fetal anomalies v0.1308 EOGT Zornitza Stark Publications for gene: EOGT were set to
Fetal anomalies v0.1307 EOGT Zornitza Stark edited their review of gene: EOGT: Changed rating: GREEN
Fetal anomalies v0.1307 EOGT Zornitza Stark Deleted their comment
Mendeliome v0.10235 ADSL Zornitza Stark Marked gene: ADSL as ready
Mendeliome v0.10235 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Mendeliome v0.10235 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050
Mendeliome v0.10234 ADSL Zornitza Stark Publications for gene: ADSL were set to
Mendeliome v0.10233 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1307 ADSL Zornitza Stark Marked gene: ADSL as ready
Fetal anomalies v0.1307 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Fetal anomalies v0.1307 ADSL Zornitza Stark Publications for gene: ADSL were set to
Fetal anomalies v0.1306 ADSL Zornitza Stark edited their review of gene: ADSL: Changed publications: 1302001, 22180458, 18524658, 27626380
Fetal anomalies v0.1306 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from ADENYLOSUCCINASE DEFICIENCY to Adenylosuccinase deficiency, MIM# 103050
Fetal anomalies v0.1305 ADSL Zornitza Stark reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rasopathy v0.94 RASA2 Zornitza Stark Phenotypes for gene: RASA2 were changed from to Rasopathy
Fetal anomalies v0.1305 ACTC1 Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Four families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD. Two had the same variant, founder.
Congenital Heart Defect v0.163 ACTC1 Zornitza Stark Tag founder tag was added to gene: ACTC1.
Congenital Heart Defect v0.163 ACTC1 Zornitza Stark Classified gene: ACTC1 as Amber List (moderate evidence)
Congenital Heart Defect v0.163 ACTC1 Zornitza Stark Gene: actc1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.162 ACTC1 Zornitza Stark changed review comment from: Three families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies.; to: Three families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies.

Two of the families had the same founder variant.
Congenital Heart Defect v0.162 ACTC1 Zornitza Stark edited their review of gene: ACTC1: Changed rating: AMBER
Genetic Epilepsy v0.1410 KCND2 Zornitza Stark Marked gene: KCND2 as ready
Genetic Epilepsy v0.1410 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1410 KCND2 Zornitza Stark Classified gene: KCND2 as Green List (high evidence)
Genetic Epilepsy v0.1410 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1409 KCND2 Zornitza Stark gene: KCND2 was added
gene: KCND2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260
Phenotypes for gene: KCND2 were set to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250
Review for gene: KCND2 was set to GREEN
Added comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.

PMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M.

PMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.

PMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4371 KCND2 Zornitza Stark Marked gene: KCND2 as ready
Intellectual disability syndromic and non-syndromic v0.4371 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4371 KCND2 Zornitza Stark Classified gene: KCND2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4371 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4370 KCND2 Zornitza Stark gene: KCND2 was added
gene: KCND2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260
Phenotypes for gene: KCND2 were set to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250
Review for gene: KCND2 was set to GREEN
Added comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.

PMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M.

PMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.

PMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant.
Sources: Literature
Sources: Literature
Mendeliome v0.10232 KCND2 Zornitza Stark Marked gene: KCND2 as ready
Mendeliome v0.10232 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10232 KCND2 Zornitza Stark Phenotypes for gene: KCND2 were changed from global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250
Mendeliome v0.10231 KCND2 Zornitza Stark Classified gene: KCND2 as Green List (high evidence)
Mendeliome v0.10231 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1305 ELN Zornitza Stark Marked gene: ELN as ready
Fetal anomalies v0.1305 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Fetal anomalies v0.1305 ELN Zornitza Stark Phenotypes for gene: ELN were changed from ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS to Cutis laxa 123700; Supravalvar aortic stenosis 185500
Fetal anomalies v0.1304 ELN Zornitza Stark Publications for gene: ELN were set to
Clefting disorders v0.160 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Intellectual disability syndromic and non-syndromic v0.4369 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Pierre Robin Sequence v0.41 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Mendeliome v0.10230 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Mandibulofacial Acrofacial dysostosis v1.0 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Marked gene: EIF4A3 as ready
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Gene: eif4a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Phenotypes for gene: EIF4A3 were changed from RICHIERI-COSTA-PEREIRA SYNDROME to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome
Fetal anomalies v0.1302 EIF4A3 Zornitza Stark Publications for gene: EIF4A3 were set to
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from vanishing white matter disease 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896
Fetal anomalies v0.1300 EIF2B3 Zornitza Stark Classified gene: EIF2B3 as Amber List (moderate evidence)
Fetal anomalies v0.1300 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1299 EIF2B3 Zornitza Stark changed review comment from: Progressive neurodegenerative disorder rather than ID.; to: Progressive neurodegenerative disorder, variable age of onset.
Fetal anomalies v0.1299 EIF2B3 Zornitza Stark edited their review of gene: EIF2B3: Changed rating: AMBER
Mendeliome v0.10230 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Mendeliome v0.10230 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Mendeliome v0.10230 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Mendeliome v0.10229 EYA1 Zornitza Stark Publications for gene: EYA1 were set to
Mendeliome v0.10228 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10227 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1299 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Fetal anomalies v0.1299 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1299 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1 to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Fetal anomalies v0.1298 EYA1 Zornitza Stark Publications for gene: EYA1 were set to
Fetal anomalies v0.1297 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1296 EYA1 Belinda Chong reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867, 263442; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from COCKAYNE SYNDROME TYPE A to Cockayne syndrome, type A, MIM# 216400
Fetal anomalies v0.1295 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B 614678
Fetal anomalies v0.1293 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Fetal anomalies v0.1292 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Fetal anomalies v0.1292 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1292 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Fetal anomalies v0.1291 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Mendeliome v0.10227 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Mendeliome v0.10227 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Mendeliome v0.10227 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Mendeliome v0.10226 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Mendeliome v0.10225 FBXL4 Zornitza Stark Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B; TRICHOTHIODYSTROPHY PHOTOSENSITIVE to Xeroderma pigmentosum, group B 61, MIM#0651; Trichothiodystrophy 2, photosensitive, MIM# 616390
Fetal anomalies v0.1289 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Fetal anomalies v0.1288 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Fetal anomalies v0.1288 FGF8 Zornitza Stark Gene: fgf8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1288 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia 612702 to Holoprosencephaly; MONDO:0016296
Fetal anomalies v0.1287 FGF8 Zornitza Stark Publications for gene: FGF8 were set to 20463092; 18596921; 24280688
Fetal anomalies v0.1286 FGF8 Zornitza Stark Mode of inheritance for gene: FGF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1285 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27363716, 29584859; Phenotypes: Holoprosencephaly, MONDO:0016296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Marked gene: FKBP14 as ready
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Gene: fkbp14 has been classified as Green List (High Evidence).
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Phenotypes for gene: FKBP14 were changed from EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557
Fetal anomalies v0.1284 FKBP14 Zornitza Stark Publications for gene: FKBP14 were set to
Fetal anomalies v0.1283 FKBP14 Zornitza Stark reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from BAMFORTH-LAZARUS SYNDROME to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437
Fetal anomalies v0.1282 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Fetal anomalies v0.1280 FOXF1 Zornitza Stark Publications for gene: FOXF1 were set to
Mendeliome v0.10224 GALE Zornitza Stark Marked gene: GALE as ready
Mendeliome v0.10224 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Mendeliome v0.10224 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Mendeliome v0.10224 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Mendeliome v0.10224 GALE Zornitza Stark Phenotypes for gene: GALE were changed from to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism
Fetal anomalies v0.1279 FOXF1 Zornitza Stark Mode of inheritance for gene: FOXF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1278 EXOSC3 Belinda Chong changed review comment from: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.; to: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.
Fetal anomalies v0.1278 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Fetal anomalies v0.1278 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1278 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Fetal anomalies v0.1277 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1276 EXOSC3 Belinda Chong reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 25149867, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10223 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Mendeliome v0.10223 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Mendeliome v0.10223 GALE Zornitza Stark Publications for gene: GALE were set to
Mendeliome v0.10222 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Mendeliome v0.10221 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Mendeliome v0.10220 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10219 FREM2 Zornitza Stark Marked gene: FREM2 as ready
Mendeliome v0.10219 FREM2 Zornitza Stark Gene: frem2 has been classified as Green List (High Evidence).
Mendeliome v0.10219 FREM2 Zornitza Stark Phenotypes for gene: FREM2 were changed from to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666
Mendeliome v0.10218 FREM2 Zornitza Stark Publications for gene: FREM2 were set to
Mendeliome v0.10217 FREM2 Zornitza Stark Mode of inheritance for gene: FREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1276 FREM2 Zornitza Stark Marked gene: FREM2 as ready
Fetal anomalies v0.1276 FREM2 Zornitza Stark Gene: frem2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1276 FREM2 Zornitza Stark Phenotypes for gene: FREM2 were changed from FRASER SYNDROME to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666
Fetal anomalies v0.1275 FREM2 Zornitza Stark Publications for gene: FREM2 were set to
Fetal anomalies v0.1274 GAA Zornitza Stark Marked gene: GAA as ready
Fetal anomalies v0.1274 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Fetal anomalies v0.1274 GAA Zornitza Stark Phenotypes for gene: GAA were changed from GLYCOGEN STORAGE DISEASE TYPE II to Glycogen storage disease II MIM#232300
Fetal anomalies v0.1273 ERCC8 Belinda Chong reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661080, 21108394; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1273 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Fetal anomalies v0.1273 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1273 NPR2 Zornitza Stark Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)
Fetal anomalies v0.1272 NPR2 Zornitza Stark Publications for gene: NPR2 were set to
Fetal anomalies v0.1271 NPR2 Zornitza Stark Mode of pathogenicity for gene: NPR2 was changed from to Other
Fetal anomalies v0.1270 NPR2 Zornitza Stark Mode of inheritance for gene: NPR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1269 NPR2 Zornitza Stark Mode of inheritance for gene: NPR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10216 GALE Zornitza Stark Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10215 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism
Mendeliome v0.10214 GALK1 Zornitza Stark Publications for gene: GALK1 were set to
Fetal anomalies v0.1268 GALE Zornitza Stark Marked gene: GALE as ready
Fetal anomalies v0.1268 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Fetal anomalies v0.1268 GALE Zornitza Stark Phenotypes for gene: GALE were changed from EPIMERASE-DEFICIENCY GALACTOSEMIA to Galactose epimerase deficiency MIM#230350
Fetal anomalies v0.1267 GALE Zornitza Stark Publications for gene: GALE were set to
Mendeliome v0.10213 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516 20456449 9443879 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10213 GALK1 Zornitza Stark Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1266 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Fetal anomalies v0.1266 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1266 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from GALACTOSEMIA II to Galactokinase deficiency with cataracts MIM#230200
Fetal anomalies v0.1265 GALK1 Ain Roesley edited their review of gene: GALK1: Changed rating: GREEN
Fetal anomalies v0.1265 GALK1 Zornitza Stark Publications for gene: GALK1 were set to
Fetal anomalies v0.1264 GALK1 Ain Roesley changed review comment from: There is no structural changes that can be identified in a neonate with this condition; to: Cataracts' visible on ultrasound
Fetal anomalies v0.1264 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1264 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516, 20456449, 9443879, 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1264 GALNS Zornitza Stark Marked gene: GALNS as ready
Fetal anomalies v0.1264 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Fetal anomalies v0.1264 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 4A to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Fetal anomalies v0.1263 GALNS Zornitza Stark Publications for gene: GALNS were set to
Fetal anomalies v0.1262 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1262 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Fetal anomalies v0.1262 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1262 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from ATRIAL SEPTAL DEFECT TYPE 2 to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Fetal anomalies v0.1261 GATA4 Zornitza Stark Publications for gene: GATA4 were set to
Fetal anomalies v0.1260 GATA4 Zornitza Stark Mode of inheritance for gene: GATA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10212 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Mendeliome v0.10212 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Mendeliome v0.10212 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Mendeliome v0.10211 GATA4 Zornitza Stark Publications for gene: GATA4 were set to
Mendeliome v0.10210 GATA4 Zornitza Stark Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from NEPHROTIC SYNDROME TYPE 1 to Nephrotic syndrome, type 1 (MIM#256300)
Fetal anomalies v0.1258 NPHS1 Zornitza Stark Publications for gene: NPHS1 were set to
Mendeliome v0.10209 Zornitza Stark removed gene:NPC1 from the panel
Fetal anomalies v0.1257 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Fetal anomalies v0.1257 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1257 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from NIEMANN-PICK DISEASE, TYPE C1 to Niemann-Pick disease, type C1/ type D (MIM#257220)
Fetal anomalies v0.1256 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from HAJDU-CHENEY SYNDROME to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Fetal anomalies v0.1254 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Fetal anomalies v0.1253 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION to Adams-Oliver syndrome 5 (MIM#616028)
Fetal anomalies v0.1251 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Fetal anomalies v0.1250 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1249 NOG Zornitza Stark Marked gene: NOG as ready
Fetal anomalies v0.1249 NOG Zornitza Stark Gene: nog has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1249 NOG Zornitza Stark Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Fetal anomalies v0.1248 NOG Zornitza Stark Publications for gene: NOG were set to
Fetal anomalies v0.1247 NOG Zornitza Stark Mode of inheritance for gene: NOG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1246 NOG Zornitza Stark Classified gene: NOG as Amber List (moderate evidence)
Fetal anomalies v0.1246 NOG Zornitza Stark Gene: nog has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
Fetal anomalies v0.1244 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Fetal anomalies v0.1243 GCDH Zornitza Stark Marked gene: GCDH as ready
Fetal anomalies v0.1243 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Fetal anomalies v0.1243 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from GLUTARICACIDEMIA TYPE 1 to Glutaric aciduria, type I MIM#231670
Fetal anomalies v0.1242 GCDH Zornitza Stark Publications for gene: GCDH were set to
Mendeliome v0.10208 COMT Zornitza Stark Marked gene: COMT as ready
Mendeliome v0.10208 COMT Zornitza Stark Gene: comt has been classified as Red List (Low Evidence).
Mendeliome v0.10208 COMT Zornitza Stark Classified gene: COMT as Red List (low evidence)
Mendeliome v0.10208 COMT Zornitza Stark Gene: comt has been classified as Red List (Low Evidence).
Mendeliome v0.10207 FAT4 Ain Roesley reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FAT4 Ain Roesley reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FBXL4 Ain Roesley reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10207 FBXL4 Ain Roesley reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 ERCC3 Belinda Chong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Xeroderma pigmentosum, group B 61, MIM#0651, Trichothiodystrophy 2, photosensitive, MIM# 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FGF8 Ain Roesley reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301509; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia MIM#612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FKBP14 Ain Roesley reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXE1 Ain Roesley reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXF1 Ain Roesley reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28661489; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4369 UBE4A Zornitza Stark Marked gene: UBE4A as ready
Intellectual disability syndromic and non-syndromic v0.4369 UBE4A Zornitza Stark Gene: ube4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4369 UBE4A Zornitza Stark Phenotypes for gene: UBE4A were changed from Intellectual disability and global developmental delay to Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Intellectual disability syndromic and non-syndromic v0.4368 UBE4A Zornitza Stark reviewed gene: UBE4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10207 UBE4A Zornitza Stark Phenotypes for gene: UBE4A were changed from Intellectual disability and global developmental delay to Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Mendeliome v0.10206 UBE4A Zornitza Stark edited their review of gene: UBE4A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Fetal anomalies v0.1241 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10206 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10206 FREM2 Ain Roesley reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FREM2 Ain Roesley reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Autoinflammatory Disorders v0.127 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Autoinflammatory Disorders v0.126 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Susceptibility to Viral Infections v0.82 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Susceptibility to Viral Infections v0.81 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendeliome v0.10206 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendeliome v0.10205 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Fetal anomalies v0.1241 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Fetal anomalies v0.1240 SMAD2 Zornitza Stark edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Congenital Heart Defect v0.162 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Congenital Heart Defect v0.161 SMAD2 Zornitza Stark edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Fetal anomalies v0.1240 GAA Ain Roesley reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10205 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Mendeliome v0.10204 SMAD2 Zornitza Stark reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.60 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease to Loeys-Dietz syndrome 6, MIM# 619656
Aortopathy_Connective Tissue Disorders v1.59 SMAD2 Zornitza Stark edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656
Fetal anomalies v0.1240 NPR2 Daniel Flanagan reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15146390, 31990356, 30602027, 24001744, 24057292; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type (MIM#602875), Epiphyseal chondrodysplasia, Miura type (MIM#615923), Short stature with nonspecific skeletal abnormalities (MIM#616255); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1240 GALE Ain Roesley reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21290786; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALK1 Ain Roesley reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 5129682; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALNS Ain Roesley reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10204 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1240 NPHS1 Daniel Flanagan reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577936, 17413422; Phenotypes: Nephrotic syndrome, type 1 (MIM#256300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10204 NPC1 Daniel Flanagan gene: NPC1 was added
gene: NPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 12408188; 9211849
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/ type D (MIM#257220)
Review for gene: NPC1 was set to GREEN
Added comment: Biallelic NPC1 variants cause Niemann-Pick disease, type C1/ type D. Prenatal manifestation: hydrops fetalis.
Sources: Literature
Fetal anomalies v0.1240 NPC1 Daniel Flanagan edited their review of gene: NPC1: Changed publications: 12408188, 9211849
Fetal anomalies v0.1240 NPC1 Daniel Flanagan reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12408188, 12408188; Phenotypes: Niemann-Pick disease, type C1/ type D (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 NOTCH2 Daniel Flanagan reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 GCDH Ain Roesley reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536184; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 NOTCH1 Daniel Flanagan reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10204 COMT Ain Roesley reviewed gene: COMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.1240 NOG Daniel Flanagan reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 (MIM#611377), Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 NKX3-2 Daniel Flanagan reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10204 KCND2 Eleanor Williams gene: KCND2 was added
gene: KCND2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260
Phenotypes for gene: KCND2 were set to global developmental delay, HP:0001263; seizure, HP:0001250
Mode of pathogenicity for gene: KCND2 was set to Other
Review for gene: KCND2 was set to GREEN
Added comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.

PMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M.

PMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.

PMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant.
Sources: Literature
Mendeliome v0.10204 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Mendeliome v0.10204 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Mendeliome v0.10204 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896
Mendeliome v0.10203 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to
Mendeliome v0.10202 EIF2B2 Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10201 EIF2B2 Zornitza Stark changed review comment from: Multiple families reported, marked phenotypic variability.; to: Multiple families reported, marked phenotypic variability, age of onset from infancy to adulthood.
Mendeliome v0.10201 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21484434, 14566705, 28041799, 30266093, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896, Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896; congenital cataract
Fetal anomalies v0.1239 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to 30266093; 28597716
Fetal anomalies v0.1238 EIF2B2 Zornitza Stark edited their review of gene: EIF2B2: Changed rating: GREEN
Fetal anomalies v0.1238 EIF2B2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Fetal anomalies v0.1237 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Fetal anomalies v0.1236 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Fetal anomalies v0.1234 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Fetal anomalies v0.1233 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME to Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia
Fetal anomalies v0.1231 EFNB1 Zornitza Stark Publications for gene: EFNB1 were set to
Genetic Epilepsy v0.1408 CHRNB2 Zornitza Stark Marked gene: CHRNB2 as ready
Genetic Epilepsy v0.1408 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1408 CHRNB2 Zornitza Stark Phenotypes for gene: CHRNB2 were changed from to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375
Genetic Epilepsy v0.1407 CHRNB2 Zornitza Stark Publications for gene: CHRNB2 were set to
Genetic Epilepsy v0.1406 CHRNB2 Zornitza Stark Mode of inheritance for gene: CHRNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1405 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3, MIM# 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Marked gene: CHRNB2 as ready
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Red List (Low Evidence).
Mendeliome v0.10201 CHRNB2 Zornitza Stark Marked gene: CHRNB2 as ready
Mendeliome v0.10201 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Green List (High Evidence).
Mendeliome v0.10201 CHRNB2 Zornitza Stark Phenotypes for gene: CHRNB2 were changed from to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375
Mendeliome v0.10200 CHRNB2 Zornitza Stark Publications for gene: CHRNB2 were set to
Mendeliome v0.10199 CHRNB2 Zornitza Stark Mode of inheritance for gene: CHRNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10198 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3, MIM# 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Phenotypes for gene: CHRNB2 were changed from CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375
Fetal anomalies v0.1229 CHRNB2 Zornitza Stark Publications for gene: CHRNB2 were set to
Fetal anomalies v0.1228 CHRNB2 Zornitza Stark Mode of inheritance for gene: CHRNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1227 CHRNB2 Zornitza Stark Classified gene: CHRNB2 as Red List (low evidence)
Fetal anomalies v0.1227 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1226 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: RED; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.319 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Arthrogryposis v0.319 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Arthrogryposis v0.319 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Arthrogryposis v0.318 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Arthrogryposis v0.317 CHRNB1 Zornitza Stark Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.316 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10198 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Mendeliome v0.10198 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Mendeliome v0.10198 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Mendeliome v0.10197 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Mendeliome v0.10196 CHRNB1 Zornitza Stark Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10195 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Fetal anomalies v0.1225 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Fetal anomalies v0.1224 CHRNB1 Zornitza Stark Classified gene: CHRNB1 as Green List (high evidence)
Fetal anomalies v0.1224 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1223 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10195 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Fetal anomalies v0.1222 CHRNA3 Zornitza Stark Publications for gene: CHRNA3 were set to
Fetal anomalies v0.1221 CHRNA3 Zornitza Stark Classified gene: CHRNA3 as Green List (high evidence)
Fetal anomalies v0.1221 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Mendeliome v0.10194 CHRNA3 Zornitza Stark changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.

Onset is in utero or early childhood.

Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.
Fetal anomalies v0.1220 CHRNA3 Zornitza Stark changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.

Onset is in utero or early childhood.

Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.
Fetal anomalies v0.1220 CHRNA3 Zornitza Stark reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Fetal anomalies v0.1219 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Intellectual disability syndromic and non-syndromic v0.4368 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Intellectual disability syndromic and non-syndromic v0.4368 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4368 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Intellectual disability syndromic and non-syndromic v0.4367 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Intellectual disability syndromic and non-syndromic v0.4366 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4365 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10194 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Mendeliome v0.10194 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Mendeliome v0.10194 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Mendeliome v0.10193 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Mendeliome v0.10192 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1218 CHD8 Zornitza Stark Classified gene: CHD8 as Amber List (moderate evidence)
Fetal anomalies v0.1218 CHD8 Zornitza Stark Gene: chd8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1217 CHD8 Zornitza Stark changed review comment from: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder.; to: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder. Macrocephaly reported of prenatal onset.
Fetal anomalies v0.1217 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed rating: AMBER
Mendeliome v0.10191 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1217 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Fetal anomalies v0.1217 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1217 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Fetal anomalies v0.1216 CHMP1A Zornitza Stark Classified gene: CHMP1A as Green List (high evidence)
Fetal anomalies v0.1216 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1215 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Fetal anomalies v0.1215 CHD8 Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1215 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from AUTISM to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Fetal anomalies v0.1214 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Fetal anomalies v0.1213 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1212 CHD8 Zornitza Stark Classified gene: CHD8 as Red List (low evidence)
Fetal anomalies v0.1212 CHD8 Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1211 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: RED; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1211 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Fetal anomalies v0.1211 CHD3 Zornitza Stark Gene: chd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1211 CHD3 Zornitza Stark Phenotypes for gene: CHD3 were changed from Apraxia of speech to Snijders Blok-Campeau syndrome, MIM#618205
Fetal anomalies v0.1210 CHD3 Zornitza Stark Publications for gene: CHD3 were set to
Fetal anomalies v0.1209 CHD3 Zornitza Stark Mode of inheritance for gene: CHD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1208 CHD3 Zornitza Stark changed review comment from: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list; to: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.

Macrocephaly in most individuals, otherwise no significant association with congenital anomalies.
Sources: Expert list
Fetal anomalies v0.1208 CHD3 Zornitza Stark edited their review of gene: CHD3: Changed rating: AMBER
Fetal anomalies v0.1208 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Fetal anomalies v0.1208 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1208 CFL2 Zornitza Stark Publications for gene: CFL2 were set to
Fetal anomalies v0.1207 CFL2 Zornitza Stark Classified gene: CFL2 as Red List (low evidence)
Fetal anomalies v0.1207 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1206 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: 17160903, 22560515, 32697999, 29457652, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: None
Fetal anomalies v0.1206 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Fetal anomalies v0.1206 CERS3 Zornitza Stark Gene: cers3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1206 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Fetal anomalies v0.1205 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Fetal anomalies v0.1204 CERS3 Zornitza Stark Classified gene: CERS3 as Red List (low evidence)
Fetal anomalies v0.1204 CERS3 Zornitza Stark Gene: cers3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1203 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: RED; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1203 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Fetal anomalies v0.1203 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1203 CEP63 Zornitza Stark Phenotypes for gene: CEP63 were changed from ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871 to Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871
Fetal anomalies v0.1202 CEP63 Zornitza Stark Publications for gene: CEP63 were set to
Fetal anomalies v0.1201 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Fetal anomalies v0.1201 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Fetal anomalies v0.1201 CEP55 Zornitza Stark Publications for gene: CEP55 were set to 28295209; 28264986; 30622327
Fetal anomalies v0.1200 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Fetal anomalies v0.1200 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Callosome v0.347 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Callosome v0.347 CEP135 Zornitza Stark Gene: cep135 has been classified as Red List (Low Evidence).
Callosome v0.347 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Callosome v0.346 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Callosome v0.345 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.344 CEP135 Zornitza Stark Classified gene: CEP135 as Red List (low evidence)
Callosome v0.344 CEP135 Zornitza Stark Gene: cep135 has been classified as Red List (Low Evidence).
Callosome v0.343 CEP135 Zornitza Stark reviewed gene: CEP135: Rating: RED; Mode of pathogenicity: None; Publications: 30214071, 22521416, 26657937; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1199 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Fetal anomalies v0.1199 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Fetal anomalies v0.1199 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849 to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849; Microcephalic primordial dwarfism
Fetal anomalies v0.1198 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Fetal anomalies v0.1197 CEP135 Zornitza Stark Classified gene: CEP135 as Green List (high evidence)
Fetal anomalies v0.1197 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Fetal anomalies v0.1196 CEP135 Zornitza Stark commented on gene: CEP135: At least 3 families reported.
Fetal anomalies v0.1196 CEP135 Zornitza Stark edited their review of gene: CEP135: Changed publications: 30214071, 22521416, 26657937
Fetal anomalies v0.1196 CENPF Zornitza Stark Marked gene: CENPF as ready
Fetal anomalies v0.1196 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Fetal anomalies v0.1196 CENPF Zornitza Stark Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, MIM#243605
Fetal anomalies v0.1195 CENPF Zornitza Stark Publications for gene: CENPF were set to 25564561; PMID: 26820108
Fetal anomalies v0.1194 CENPF Zornitza Stark Classified gene: CENPF as Green List (high evidence)
Fetal anomalies v0.1194 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Fetal anomalies v0.1193 CENPF Zornitza Stark reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: 25564561, 28407396, 26820108; Phenotypes: Stromme syndrome (MIM#243605); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319 to Lymphatic malformation 9, MIM# 619319
Fetal anomalies v0.1192 CELSR1 Zornitza Stark Publications for gene: CELSR1 were set to
Fetal anomalies v0.1191 CELSR1 Zornitza Stark Mode of inheritance for gene: CELSR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1190 CELSR1 Zornitza Stark Classified gene: CELSR1 as Red List (low evidence)
Fetal anomalies v0.1190 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1189 CELSR1 Zornitza Stark reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: 31215153, 31403174, 26855770; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Fetal anomalies v0.1188 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Fetal anomalies v0.1188 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1187 CD96 Zornitza Stark Marked gene: CD96 as ready
Fetal anomalies v0.1187 CD96 Zornitza Stark Gene: cd96 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1187 CD96 Zornitza Stark Phenotypes for gene: CD96 were changed from C SYNDROME to C syndrome, MIM#211750
Fetal anomalies v0.1186 CD96 Zornitza Stark Publications for gene: CD96 were set to
Fetal anomalies v0.1185 CD96 Zornitza Stark Classified gene: CD96 as Red List (low evidence)
Fetal anomalies v0.1185 CD96 Zornitza Stark Gene: cd96 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1184 CD96 Zornitza Stark edited their review of gene: CD96: Changed rating: RED
Fetal anomalies v0.1184 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1183 CD96 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.; to: The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.
Fetal anomalies v0.1183 CD96 Zornitza Stark edited their review of gene: CD96: Changed rating: AMBER
Fetal anomalies v0.1183 CD96 Zornitza Stark edited their review of gene: CD96: Changed rating: GREEN
Fetal anomalies v0.1183 CD151 Zornitza Stark Marked gene: CD151 as ready
Fetal anomalies v0.1183 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1183 CD151 Zornitza Stark Phenotypes for gene: CD151 were changed from NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Fetal anomalies v0.1182 CD151 Zornitza Stark Publications for gene: CD151 were set to
Fetal anomalies v0.1181 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Fetal anomalies v0.1181 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1180 CD151 Zornitza Stark reviewed gene: CD151: Rating: RED; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v1.3 CD151 Zornitza Stark edited their review of gene: CD151: Changed rating: GREEN
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1176 CCDC8 Zornitza Stark changed review comment from: Intellect typically normal; to: 5 unrelated individuals described with the condition; two different homozygous variants described in three individuals. IUGR.
Fetal anomalies v0.1176 CCDC8 Zornitza Stark edited their review of gene: CCDC8: Changed rating: GREEN
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES to Centronuclear myopathy 4, MIM#614807
Fetal anomalies v0.1175 CCDC78 Zornitza Stark Publications for gene: CCDC78 were set to
Fetal anomalies v0.1174 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1173 CCDC78 Zornitza Stark Classified gene: CCDC78 as Red List (low evidence)
Fetal anomalies v0.1173 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1172 CCDC78 Zornitza Stark changed review comment from: Single family reported in the literature only. Mild intellectual disability was part of the phenotype.; to: Single family reported in the literature only. Onset in early childhood.
Fetal anomalies v0.1172 CCDC78 Zornitza Stark edited their review of gene: CCDC78: Changed rating: RED
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Classified gene: CCDC22 as Green List (high evidence)
Congenital Heart Defect v0.161 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.160 CCDC22 Zornitza Stark gene: CCDC22 was added
gene: CCDC22 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CCDC22 were set to 21826058; 24916641; 34020006; 33059814; 31971710
Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM# 300963
Review for gene: CCDC22 was set to GREEN
Added comment: Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. At least 5 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4365 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Intellectual disability syndromic and non-syndromic v0.4365 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4365 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963
Intellectual disability syndromic and non-syndromic v0.4364 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Intellectual disability syndromic and non-syndromic v0.4363 CCDC22 Zornitza Stark Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4362 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10191 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Mendeliome v0.10191 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Mendeliome v0.10191 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963
Mendeliome v0.10190 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Mendeliome v0.10189 CCDC22 Zornitza Stark Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10188 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, MIM# 300963
Fetal anomalies v0.1171 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Fetal anomalies v0.1170 CCDC22 Zornitza Stark Classified gene: CCDC22 as Green List (high evidence)
Fetal anomalies v0.1170 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Fetal anomalies v0.1169 CCDC22 Zornitza Stark edited their review of gene: CCDC22: Changed rating: GREEN
Fetal anomalies v0.1169 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: ; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Marked gene: CCDC151 as ready
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Publications for gene: CCDC151 were set to
Fetal anomalies v0.1168 CCDC151 Zornitza Stark Classified gene: CCDC151 as Green List (high evidence)
Fetal anomalies v0.1168 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Fetal anomalies v0.1167 CASR Zornitza Stark Marked gene: CASR as ready
Fetal anomalies v0.1167 CASR Zornitza Stark Gene: casr has been classified as Red List (Low Evidence).
Fetal anomalies v0.1167 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200 to Hyperparathyroidism, neonatal, MIM# 239200
Fetal anomalies v0.1166 CASR Zornitza Stark Classified gene: CASR as Red List (low evidence)
Fetal anomalies v0.1166 CASR Zornitza Stark Gene: casr has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CASR Zornitza Stark reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v1.3 DSG1 Zornitza Stark Publications for gene: DSG1 were set to 19558595; 23974871; 29229434
Epidermolysis bullosa v1.3 DSG1 Zornitza Stark Publications for gene: DSG1 were set to 19558595; 23974871
Epidermolysis bullosa v1.2 DSG1 Zornitza Stark Classified gene: DSG1 as Green List (high evidence)
Epidermolysis bullosa v1.2 DSG1 Zornitza Stark Gene: dsg1 has been classified as Green List (High Evidence).
Mendeliome v0.10188 CFAP65 Zornitza Stark Publications for gene: CFAP65 were set to 31501240; 31413122
Mendeliome v0.10187 RNF212 Zornitza Stark Marked gene: RNF212 as ready
Mendeliome v0.10187 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
Mendeliome v0.10187 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from to Recombination rate QTL 1, MIM#612042
Mendeliome v0.10186 RNF212 Zornitza Stark Publications for gene: RNF212 were set to
Mendeliome v0.10185 RNF212 Zornitza Stark Classified gene: RNF212 as Red List (low evidence)
Mendeliome v0.10185 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
IBMDx study v0.0 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
IBMDx study v0.0 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: XRCC2 was set to Unknown
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247
IBMDx study v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to Unknown
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
IBMDx study v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WIPF1 was set to Unknown
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
IBMDx study v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WAS was set to Unknown
Phenotypes for gene: WAS were set to Thrombocytopenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
IBMDx study v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: VPS45 was set to Unknown
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
IBMDx study v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: UBE2T was set to Unknown
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
IBMDx study v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TINF2 was set to Unknown
Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130; Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
IBMDx study v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: THPO was set to Unknown
Phenotypes for gene: THPO were set to Thrombocytopenia progressing to trilineage bone marrow failure
IBMDx study v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TERT was set to Unknown
Phenotypes for gene: TERT were set to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
IBMDx study v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TERC was set to Unknown
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
IBMDx study v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SRP54 was set to Unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
IBMDx study v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLX4 was set to Unknown
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM# 613951
IBMDx study v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to Unknown
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
IBMDx study v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to Unknown
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
IBMDx study v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SEC23B was set to Unknown
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100
IBMDx study v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SBDS was set to Unknown
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, MIM# 260400
IBMDx study v0.0 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SAMD9L was set to Unknown
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
IBMDx study v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to Unknown
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053
IBMDx study v0.0 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RUNX1 was set to Unknown
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
IBMDx study v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to Unknown
Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Dyskeratosis congenita, MIM# 615190
IBMDx study v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS7 was set to Unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
IBMDx study v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS29 was set to Unknown
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MIM# 615909
IBMDx study v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS27 was set to Unknown
Phenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409
IBMDx study v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS26 was set to Unknown
Phenotypes for gene: RPS26 were set to MONDO:0013217; Diamond-Blackfan anemia 10, MIM# 613309
IBMDx study v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS24 was set to Unknown
Phenotypes for gene: RPS24 were set to MONDO:0012529; Diamond-blackfan anemia 3, MIM# 610629
IBMDx study v0.0 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS20 was set to Unknown
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS19 was set to Unknown
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
IBMDx study v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS17 was set to Unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
IBMDx study v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS10 was set to Unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308
IBMDx study v0.0 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL9 was set to Unknown
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL5 was set to Unknown
Phenotypes for gene: RPL5 were set to MONDO:0012937; Diamond-Blackfan anaemia 6, MIM# 612561
IBMDx study v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL35A was set to Unknown
Phenotypes for gene: RPL35A were set to MONDO:0012925; Diamond-Blackfan anemia 5, MIM# 612528
IBMDx study v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL31 was set to Unknown
Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL27 was set to Unknown
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, MIM# 617408
IBMDx study v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL26 was set to Unknown
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900
IBMDx study v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL15 was set to Unknown
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
IBMDx study v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL11 was set to Unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
IBMDx study v0.0 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPA1 was set to Unknown
Phenotypes for gene: RPA1 were set to New TBD gene ASH 2020 St Judes
IBMDx study v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RBM8A was set to Unknown
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
IBMDx study v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RAD51C was set to Unknown
Phenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390
IBMDx study v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PUS1 was set to Unknown
Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
IBMDx study v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PARN was set to Unknown
Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
IBMDx study v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PALB2 was set to Unknown
Phenotypes for gene: PALB2 were set to Fanconi anaemia, complementation group N, MIM# 610832
IBMDx study v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: NHP2 was set to Unknown
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
IBMDx study v0.0 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: NBEAL2 was set to Unknown
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
IBMDx study v0.0 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MYSM1 was set to Unknown
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
IBMDx study v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
IBMDx study v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MPL was set to Unknown
Phenotypes for gene: MPL were set to Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
IBMDx study v0.0 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MECOM was set to Unknown
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)
IBMDx study v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: LYST was set to Unknown
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome (CHS)
IBMDx study v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: LIG4 was set to Unknown
Phenotypes for gene: LIG4 were set to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
IBMDx study v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: KLF1 was set to Unknown
Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
IBMDx study v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to Unknown
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
IBMDx study v0.0 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ITGB3 was set to Unknown
Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
IBMDx study v0.0 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ITGA2B was set to Unknown
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
IBMDx study v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: HOXA11 was set to Unknown
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
IBMDx study v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: HAX1 was set to Unknown
Phenotypes for gene: HAX1 were set to Kostmann syndrome MONDO:0012548; Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
IBMDx study v0.0 GP9 Zornitza Stark gene: GP9 was added
gene: GP9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP9 was set to Unknown
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GP1BB Zornitza Stark gene: GP1BB was added
gene: GP1BB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP1BB was set to Unknown
Phenotypes for gene: GP1BB were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GP1BA Zornitza Stark gene: GP1BA was added
gene: GP1BA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP1BA was set to Unknown
Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GLRX5 was set to Unknown
Phenotypes for gene: GLRX5 were set to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
IBMDx study v0.0 GFI1B Zornitza Stark gene: GFI1B was added
gene: GFI1B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GFI1B was set to Unknown
Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17
IBMDx study v0.0 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GFI1 was set to Unknown
Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
IBMDx study v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GATA2 was set to Unknown
Phenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Immunodeficiency 21, MIM# 614172; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
IBMDx study v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GATA1 was set to Unknown
Phenotypes for gene: GATA1 were set to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
IBMDx study v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to Unknown
Phenotypes for gene: G6PC3 were set to Dursun syndrome, MIM# 612541; MONDO:0012930; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
IBMDx study v0.0 FLI1 Zornitza Stark gene: FLI1 was added
gene: FLI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FLI1 was set to Unknown
Phenotypes for gene: FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome
IBMDx study v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCM was set to Unknown
Phenotypes for gene: FANCM were set to Fanconi anaemia
IBMDx study v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCL was set to Unknown
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
IBMDx study v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCI was set to Unknown
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
IBMDx study v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCG was set to Unknown
Phenotypes for gene: FANCG were set to MONDO:0013565; Fanconi anaemia, complementation group G, MIM# 614082
IBMDx study v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCF was set to Unknown
Phenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467; MONDO:0011325
IBMDx study v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCE was set to Unknown
Phenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
IBMDx study v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to Unknown
Phenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
IBMDx study v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCC was set to Unknown
Phenotypes for gene: FANCC were set to MONDO:0009213; Fanconi anemia, complementation group C, MIM# 227645
IBMDx study v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCB was set to Unknown
Phenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514
IBMDx study v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCA was set to Unknown
Phenotypes for gene: FANCA were set to MONDO:0009215; Fanconi anaemia, complementation group A, MIM# 227650
IBMDx study v0.0 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ETV6 was set to Unknown
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
IBMDx study v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
IBMDx study v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to Unknown
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, MIM# 615272
IBMDx study v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ELANE was set to Unknown
Phenotypes for gene: ELANE were set to Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700
IBMDx study v0.0 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: EFL1 was set to Unknown
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
IBMDx study v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to Unknown
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
IBMDx study v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DKC1 was set to Unknown
Phenotypes for gene: DKC1 were set to Hoyeraal-Hreidarsson Syndrome; Dyskeratosis congenita, X-linked 305000
IBMDx study v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DIAPH1 was set to Unknown
Phenotypes for gene: DIAPH1 were set to Macrothrombocytopenia and sensorineural hearing loss
IBMDx study v0.0 DDX41 Zornitza Stark gene: DDX41 was added
gene: DDX41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DDX41 was set to Unknown
Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
IBMDx study v0.0 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CYCS was set to Unknown
Phenotypes for gene: CYCS were set to Autosomal dominant thrombocytopenia 4
IBMDx study v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CXCR4 was set to Unknown
Phenotypes for gene: CXCR4 were set to WHIM syndrome, MIM# 193670
IBMDx study v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CTC1 was set to Unknown
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
IBMDx study v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CSF3R was set to Unknown
Phenotypes for gene: CSF3R were set to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
IBMDx study v0.0 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CDC42 was set to Unknown
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome with thrombocytopenia
IBMDx study v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CDAN1 was set to Unknown
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, 224120
IBMDx study v0.0 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: C15orf41 was set to Unknown
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
IBMDx study v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to Unknown
Phenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000
IBMDx study v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to Unknown
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, 1, MIM# 300751
IBMDx study v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: AK2 was set to Unknown
Phenotypes for gene: AK2 were set to MONDO:0009973; Reticular dysgenesis, MIM# 267500
IBMDx study v0.0 ADH5 Zornitza Stark gene: ADH5 was added
gene: ADH5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ADH5 was set to Unknown
Phenotypes for gene: ADH5 were set to AMED syndrome, digenic, MIM# 619151; short stature; Aplastic anaemia; myelodysplasia
IBMDx study v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ADA2 was set to Unknown
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
IBMDx study v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to Unknown
Phenotypes for gene: ACTN1 were set to ACTN1 related thrombocytopenia
IBMDx study v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to Unknown
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, MIM# 301310
IBMDx study v0.0 Zornitza Stark Added panel IBMDx study
Epidermolysis bullosa v1.1 DSG1 Chern Lim reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29229434; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Brain Channelopathies v1.3 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Brain Channelopathies v1.2 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 24700542; 22782511; 16537460
Brain Channelopathies v1.1 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v1.0 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Bi-allelic variants:

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.98 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Paroxysmal Dyskinesia v0.97 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Fetal anomalies v0.1165 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Fetal anomalies v0.1165 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Epileptic encephalopathy with complex movement disorder and regression to Combined oxidative phosphorylation deficiency 27, MIM#616672
Fetal anomalies v0.1164 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Fetal anomalies v0.1163 CARS2 Zornitza Stark Classified gene: CARS2 as Red List (low evidence)
Fetal anomalies v0.1163 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1162 CARS2 Zornitza Stark changed review comment from: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals described with this mitochondrial disorder, primarily neurological involvement, post-natal onset.
Sources: Expert list
Fetal anomalies v0.1162 CARS2 Zornitza Stark edited their review of gene: CARS2: Changed rating: RED
Paroxysmal Dyskinesia v0.96 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4362 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM#606703 to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Intellectual disability syndromic and non-syndromic v0.4361 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Intellectual disability syndromic and non-syndromic v0.4360 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4359 ADCY5 Zornitza Stark Classified gene: ADCY5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4359 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4358 ADCY5 Zornitza Stark changed review comment from: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.

Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature.; to: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.

Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647.
Intellectual disability syndromic and non-syndromic v0.4358 ADCY5 Zornitza Stark changed review comment from: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.

Note one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.; to: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.

Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature.
Intellectual disability syndromic and non-syndromic v0.4358 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.; Changed rating: AMBER; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10184 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Mendeliome v0.10183 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Mendeliome v0.10182 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 CFAP65 Eleanor Williams reviewed gene: CFAP65: Rating: ; Mode of pathogenicity: None; Publications: 34231842; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10181 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Mendeliome v0.10181 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Mendeliome v0.10181 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1 MIM#251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Mendeliome v0.10180 CANT1 Zornitza Stark Publications for gene: CANT1 were set to 19853239; 21037275; 28742282
Mendeliome v0.10179 CANT1 Zornitza Stark Publications for gene: CANT1 were set to
Mendeliome v0.10178 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10177 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1 MIM#251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1162 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Fetal anomalies v0.1162 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1162 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 to Desbuquois dysplasia 1, MIM# 251450
Fetal anomalies v0.1161 CANT1 Zornitza Stark Classified gene: CANT1 as Green List (high evidence)
Fetal anomalies v0.1161 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1160 CANT1 Zornitza Stark changed review comment from: Severe skeletal dysplasia, intellectual disability not a core feature of the phenotype (described in some); to: Severe skeletal dysplasia, prenatal onset of features.
Fetal anomalies v0.1160 CANT1 Zornitza Stark edited their review of gene: CANT1: Changed rating: GREEN
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Fetal anomalies v0.1159 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Fetal anomalies v0.1158 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1157 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Fetal anomalies v0.1157 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark changed review comment from: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.; to: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.

Congenital anomalies are not a feature, clinical presentation is typically post-natal.
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark edited their review of gene: CAMTA1: Changed rating: RED
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Gene: camk2b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 54, MIM# 617799
Fetal anomalies v0.1155 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Fetal anomalies v0.1154 CAMK2B Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported. One with significant microcephaly, otherwise congenital anomalies are not specifically reported.
Fetal anomalies v0.1154 CAMK2B Zornitza Stark edited their review of gene: CAMK2B: Changed rating: AMBER
Mendeliome v0.10177 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Mendeliome v0.10177 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Mendeliome v0.10177 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Mendeliome v0.10176 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Mendeliome v0.10175 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Gene: camk2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Fetal anomalies v0.1153 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Mendeliome v0.10174 RNF212 Paul De Fazio reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 18239089, 29277047; Phenotypes: Recombination rate QTL 1 MIM#612042; Mode of inheritance: Unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4358 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Intellectual disability syndromic and non-syndromic v0.4358 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4358 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Intellectual disability syndromic and non-syndromic v0.4357 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Intellectual disability syndromic and non-syndromic v0.4356 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4355 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1152 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1151 CAMK2A Zornitza Stark Classified gene: CAMK2A as Red List (low evidence)
Fetal anomalies v0.1151 CAMK2A Zornitza Stark Gene: camk2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1150 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: RED; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 AGRP Zornitza Stark Marked gene: AGRP as ready
Mendeliome v0.10174 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10174 AGRP Zornitza Stark Phenotypes for gene: AGRP were changed from to {Leanness, inherited} 601665; {Obesity, late-onset} 601665
Mendeliome v0.10173 AGRP Zornitza Stark Classified gene: AGRP as Red List (low evidence)
Mendeliome v0.10173 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10172 AGRP Zornitza Stark reviewed gene: AGRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leanness, inherited} 601665, {Obesity, late-onset} 601665; Mode of inheritance: None
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Fetal anomalies v0.1149 CACNA1G Zornitza Stark Mode of pathogenicity for gene: CACNA1G was changed from to Other
Fetal anomalies v0.1148 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1147 CACNA1G Zornitza Stark edited their review of gene: CACNA1G: Added comment: Microcephaly in some.; Changed rating: AMBER
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Fetal anomalies v0.1146 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Fetal anomalies v0.1145 CACNA1D Zornitza Stark Mode of pathogenicity for gene: CACNA1D was changed from to Other
Fetal anomalies v0.1144 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1143 CACNA1D Zornitza Stark Classified gene: CACNA1D as Green List (high evidence)
Fetal anomalies v0.1143 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Fetal anomalies v0.1142 CACNA1D Zornitza Stark changed review comment from: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions.; to: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions, cardiac defects and cardiomyopathy.
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from EPILEPTIC ENCEPHALOPATHY to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086
Fetal anomalies v0.1141 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1140 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Fetal anomalies v0.1140 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1139 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1139 CA5A Zornitza Stark Marked gene: CA5A as ready
Fetal anomalies v0.1139 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1139 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Fetal anomalies v0.1138 CA5A Zornitza Stark Publications for gene: CA5A were set to
Fetal anomalies v0.1137 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Fetal anomalies v0.1137 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1136 CA5A Zornitza Stark changed review comment from: Episodic metabolic decompensation rather than true ID, majority have had normal neurological outcome with appropriate treatment of acute crises.; to: Episodic metabolic decompensation, majority have had normal neurological outcome with appropriate treatment of acute crises.
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413 to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Fetal anomalies v0.1135 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Fetal anomalies v0.1134 C2CD3 Zornitza Stark Classified gene: C2CD3 as Green List (high evidence)
Fetal anomalies v0.1134 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Fetal anomalies v0.1132 C21orf59 Zornitza Stark Classified gene: C21orf59 as Green List (high evidence)
Fetal anomalies v0.1132 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Fetal anomalies v0.1131 C21orf59 Zornitza Stark changed review comment from: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population; to: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population.

Laterality defects in about half.
Mendeliome v0.10172 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mendeliome v0.10172 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mendeliome v0.10172 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mendeliome v0.10171 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mendeliome v0.10170 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10169 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1131 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Fetal anomalies v0.1131 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1130 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Fetal anomalies v0.1129 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Fetal anomalies v0.1129 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, MIM#218340
Fetal anomalies v0.1127 C12orf57 Zornitza Stark Classified gene: C12orf57 as Green List (high evidence)
Fetal anomalies v0.1127 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1126 C12orf57 Zornitza Stark changed review comment from: Ocular coloboma is part of the phenotype.
Sources: Expert list; to: Talipes and hip dislocation are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.1126 BPTF Zornitza Stark Marked gene: BPTF as ready
Fetal anomalies v0.1126 BPTF Zornitza Stark Gene: bptf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1126 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Fetal anomalies v0.1125 BPTF Zornitza Stark Publications for gene: BPTF were set to
Fetal anomalies v0.1124 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1123 BPTF Zornitza Stark changed review comment from: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.; to: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.

The onset of microcephaly is post-natal, most of the other physical features are relatively mild, unclear if would be identifiable antenatally.
Fetal anomalies v0.1123 BPTF Zornitza Stark edited their review of gene: BPTF: Changed rating: AMBER
Mendeliome v0.10169 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Mendeliome v0.10169 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Mendeliome v0.10169 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Mendeliome v0.10168 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Mendeliome v0.10167 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Gene: bola3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Fetal anomalies v0.1122 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Fetal anomalies v0.1121 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1121 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Fetal anomalies v0.1121 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1121 BNC2 Zornitza Stark Phenotypes for gene: BNC2 were changed from Lower urinary tract obstruction, congenital, 618612 to Lower urinary tract obstruction, congenital, MIM #618612
Fetal anomalies v0.1120 BNC2 Zornitza Stark Publications for gene: BNC2 were set to
Fetal anomalies v0.1119 BNC2 Zornitza Stark Mode of inheritance for gene: BNC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1118 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Fetal anomalies v0.1118 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1117 BNC2 Zornitza Stark reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656805, 31051115; Phenotypes: Lower urinary tract obstruction, congenital, MIM #618612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from HERMANSKY-PUDLAK SYNDROME 9 to Hermansky-Pudlak syndrome 9, MIM# 614171
Fetal anomalies v0.1116 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Fetal anomalies v0.1115 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence)
Fetal anomalies v0.1115 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation for HPS in general is post-natal.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation of HPS in general is post-natal.
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: None
Fetal anomalies v0.1114 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Fetal anomalies v0.1114 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1114 BCL9L Zornitza Stark Phenotypes for gene: BCL9L were changed from Heterotaxy to Heterotaxy; Congenital Heart Disease
Fetal anomalies v0.1113 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047
Fetal anomalies v0.1112 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Fetal anomalies v0.1112 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1112 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from NESTOR-GUILLERMO PROGERIA SYNDROME to Nestor-Guillermo progeria syndrome, MIM# 614008
Fetal anomalies v0.1111 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Fetal anomalies v0.1110 BANF1 Zornitza Stark Classified gene: BANF1 as Red List (low evidence)
Fetal anomalies v0.1110 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1109 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: RED; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Mendeliome v0.10166 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Mendeliome v0.10166 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175
Mendeliome v0.10165 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Mendeliome v0.10164 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1109 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Fetal anomalies v0.1109 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1109 B9D2 Zornitza Stark Classified gene: B9D2 as Green List (high evidence)
Fetal anomalies v0.1109 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Marked gene: WLS as ready
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1107 WLS Zornitza Stark gene: WLS was added
gene: WLS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386
Phenotypes for gene: WLS were set to Zaki syndrome, MIM#619648
Review for gene: WLS was set to GREEN
Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Microcephaly v1.82 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10163 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Mendeliome v0.10162 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.159 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Congenital Heart Defect v0.158 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.99 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.98 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.10 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1106 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Fetal anomalies v0.1106 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1106 B9D1 Zornitza Stark Publications for gene: B9D1 were set to 32622957; 24886560
Fetal anomalies v0.1105 B9D1 Zornitza Stark Classified gene: B9D1 as Green List (high evidence)
Fetal anomalies v0.1105 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.; to: PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER; to: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555, 34338422, 21763481
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Added comment: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model
PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)
PMID: 24886560 - 2 Joubert syndrome cases
PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; Changed rating: GREEN
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23877401; 23359570
Fetal anomalies v0.1103 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Fetal anomalies v0.1103 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Fetal anomalies v0.1101 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Fetal anomalies v0.1100 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Fetal anomalies v0.1100 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Fetal anomalies v0.1099 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from ABCD SYNDROME to Waardenburg syndrome, type 4A, MIM#277580; ABCD syndrome, MIM# 600501
Fetal anomalies v0.1098 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1097 EDNRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Well established gene-disease association. Hirschsprung's disease and decreased myenteric and submucosal ganglia in the bowel.
Fetal anomalies v0.1097 EDNRB Zornitza Stark edited their review of gene: EDNRB: Changed rating: GREEN
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.41 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367
Pierre Robin Sequence v0.40 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Pierre Robin Sequence v0.39 EDNRA Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.38 EDNRA Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from DISTAL ARTHROGRYPOSIS TYPE 5D to Arthrogryposis, distal, type 5D, MIM# 615065
Fetal anomalies v0.1096 ECEL1 Zornitza Stark Publications for gene: ECEL1 were set to
Mendeliome v0.10162 EBP Zornitza Stark Marked gene: EBP as ready
Mendeliome v0.10162 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Mendeliome v0.10162 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Mendeliome v0.10161 EBP Zornitza Stark Publications for gene: EBP were set to
Mendeliome v0.10160 EBP Zornitza Stark Mode of inheritance for gene: EBP 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)
Mendeliome v0.10159 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 10391218, 10391219
Mendeliome v0.10159 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1095 EBP Zornitza Stark Marked gene: EBP as ready
Fetal anomalies v0.1095 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Fetal anomalies v0.1095 EBP Zornitza Stark Phenotypes for gene: EBP were changed from CHONDRODYSPLASIA PUNCTATA 2, X-LINKED to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Fetal anomalies v0.1094 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Fetal anomalies v0.1094 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1094 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330 to Hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Fetal anomalies v0.1093 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Fetal anomalies v0.1092 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1091 EBF3 Zornitza Stark changed review comment from: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.; to: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Microcephaly also reported.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 to Mental retardation, autosomal dominant 7, MIM# 614104
Fetal anomalies v0.1090 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Fetal anomalies v0.1089 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Fetal anomalies v0.1087 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
Fetal anomalies v0.1085 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Fetal anomalies v0.1084 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10159 DYM Zornitza Stark Marked gene: DYM as ready
Mendeliome v0.10159 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Mendeliome v0.10159 DYM Zornitza Stark Phenotypes for gene: DYM were changed from to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Mendeliome v0.10158 DYM Zornitza Stark Publications for gene: DYM were set to
Mendeliome v0.10157 DYM Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10156 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12491225, 12554689, 16470731, 19005420; Phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1083 DYM Zornitza Stark Marked gene: DYM as ready
Fetal anomalies v0.1083 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Fetal anomalies v0.1083 DYM Zornitza Stark Phenotypes for gene: DYM were changed from SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Fetal anomalies v0.1082 DYM Zornitza Stark edited their review of gene: DYM: Changed phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800
Fetal anomalies v0.1082 DYM Zornitza Stark Publications for gene: DYM were set to
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.

The two conditions likely represent a spectrum rather than two distinct disorders.
Fetal anomalies v0.1081 DYM Zornitza Stark edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731, 19005420
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.
Fetal anomalies v0.1081 DYM Zornitza Stark Deleted their comment
Fetal anomalies v0.1081 DYM Zornitza Stark edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731
Fetal anomalies v0.1081 DYM Zornitza Stark commented on gene: DYM: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests
Fetal anomalies v0.1081 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Fetal anomalies v0.1081 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1081 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ie, 608799
Fetal anomalies v0.1080 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Fetal anomalies v0.1079 DPM1 Zornitza Stark changed review comment from: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.; to: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.

Contractures also reported.
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1078 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078; Changed phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Fetal anomalies v0.1076 DOLK Zornitza Stark Marked gene: DOLK as ready
Fetal anomalies v0.1076 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1076 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Fetal anomalies v0.1075 DOLK Zornitza Stark Publications for gene: DOLK were set to 28816422
Fetal anomalies v0.1074 DOLK Zornitza Stark Mode of pathogenicity for gene: DOLK was changed from Other to None
Fetal anomalies v0.1073 DOLK Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence)
Fetal anomalies v0.1073 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1072 DOLK Zornitza Stark edited their review of gene: DOLK: Added comment: Microcephaly is acquired, and DCM described in early childhood. Typical presentation is with seizures and hypotonia.; Changed rating: AMBER
Fetal anomalies v0.1072 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Fetal anomalies v0.1072 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Fetal anomalies v0.1072 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389 to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Fetal anomalies v0.1071 DOK7 Zornitza Stark Publications for gene: DOK7 were set to 30266093
Fetal anomalies v0.1070 DOK7 Zornitza Stark Deleted their comment
Fetal anomalies v0.1070 DOK7 Zornitza Stark edited their review of gene: DOK7: Added comment: Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404.

Association with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.; Changed rating: GREEN; Changed publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Changed phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389
Mendeliome v0.10156 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Mendeliome v0.10156 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Mendeliome v0.10156 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219
Mendeliome v0.10155 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Mendeliome v0.10154 DOCK6 Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1070 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Fetal anomalies v0.1069 DOCK6 Zornitza Stark edited their review of gene: DOCK6: Changed publications: 21820096, 23522784, 25132448, 25824905
Fetal anomalies v0.1069 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID. Transverse limb defects.; to: Variable brain involvement, including ID. Transverse limb defects.

More than 10 unrelated families reported.
Mendeliome v0.10153 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from ADAMS-OLIVER SYNDROME 2 to Adams-Oliver syndrome 2, MIM#614219
Fetal anomalies v0.1068 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID.; to: Variable brain involvement, including ID. Transverse limb defects.
Mendeliome v0.10153 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Mendeliome v0.10152 DNMT3A Zornitza Stark edited their review of gene: DNMT3A: Changed phenotypes: Tatton-Brown-Rahman syndrome, MIM# 615879, Heyn-Sproul-Jackson syndrome, MIM# 618724
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Fetal anomalies v0.1067 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Fetal anomalies v0.1066 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia 244400 to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Fetal anomalies v0.1064 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Mendeliome v0.10152 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Mendeliome v0.10152 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Mendeliome v0.10152 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300
Mendeliome v0.10151 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to
Mendeliome v0.10150 DNAH9 Zornitza Stark Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from Motile Cilia Defects and Situs Inversus to Ciliary dyskinesia, primary, 40, MIM# 618300