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Intellectual disability syndromic and non-syndromic v0.1901 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1900 DNAJC3 Zornitza Stark reviewed gene: DNAJC3: Rating: RED; Mode of pathogenicity: None; Publications: 25466870, 28940199; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1900 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Mendeliome v0.1154 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Mendeliome v0.1153 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Mendeliome v0.1152 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1151 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Mendeliome v0.1151 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Mendeliome v0.1150 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Intellectual disability syndromic and non-syndromic v0.1899 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Intellectual disability syndromic and non-syndromic v0.1898 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1896 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Classified gene: DLAT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Gene: dlat has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DLAT Zornitza Stark edited their review of gene: DLAT: Added comment: Only two families with ID reported; third individual had paroxysmal dyskinesia.; Changed rating: AMBER; Changed publications: 16049940, 29093066
Mendeliome v0.1150 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Mendeliome v0.1150 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1150 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Mendeliome v0.1149 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
Mendeliome v0.1148 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1147 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1146 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Mendeliome v0.1146 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1145 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Intellectual disability syndromic and non-syndromic v0.1894 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
Intellectual disability syndromic and non-syndromic v0.1893 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.1892 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1891 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark Tag 5'UTR tag was added to gene: DIP2B.
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Classified gene: DENND5A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1888 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DENND5A were set to 27431290; 27866705
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Review for gene: DENND5A was set to GREEN
Added comment: Four unrelated families, ID is part of the phenotype.
Sources: Expert list
Mendeliome v0.1145 DCPS Zornitza Stark Marked gene: DCPS as ready
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1145 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1144 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Marked gene: DCPS as ready
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1886 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Callosome v0.71 DCC Zornitza Stark Marked gene: DCC as ready
Callosome v0.71 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Callosome v0.71 DCC Zornitza Stark Phenotypes for gene: DCC were changed from to Agenesis of the corpus callosum
Callosome v0.70 DCC Zornitza Stark Publications for gene: DCC were set to
Callosome v0.69 DCC Zornitza Stark Mode of inheritance for gene: DCC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.68 DCC Zornitza Stark reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31697046; Phenotypes: Agenesis of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1884 CWF19L1 Zornitza Stark gene: CWF19L1 was added
gene: CWF19L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 15981765; 26197978; 27016154; 30167849
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Review for gene: CWF19L1 was set to GREEN
gene: CWF19L1 was marked as current diagnostic
Added comment: Three unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Mendeliome v0.1143 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1143 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1142 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1882 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, MIM#618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Marked gene: CRBN as ready
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Phenotypes for gene: CRBN were changed from to Mental retardation, autosomal recessive 2, MIM# 607417
Intellectual disability syndromic and non-syndromic v0.1880 CRBN Zornitza Stark Publications for gene: CRBN were set to
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Classified gene: CRBN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1878 CRBN Zornitza Stark reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: None; Publications: 15557513, 28143899; Phenotypes: Mental retardation, autosomal recessive 2, MIM# 607417; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Classified gene: COQ9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Gene: coq9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1877 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Reviewed again: severe neonatal presentation with metabolic decompensation, including neurological features such as abnormal tone and seizures, but not intellectual disability as such. Downgrade to Amber on this panel.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Classified gene: COQ2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Gene: coq2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COQ2 Zornitza Stark edited their review of gene: COQ2: Added comment: On further review of the literature, there is poor documentation of intellectual disability as such in the molecularly confirmed cases. Presentation is much more commonly with renal or multi-system disease.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1875 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MIM# 248340
Intellectual disability syndromic and non-syndromic v0.1874 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Classified gene: COLEC10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1872 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: RED; Mode of pathogenicity: None; Publications: 28301481; Phenotypes: 3MC syndrome 3, MIM# 248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1872 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Intellectual disability syndromic and non-syndromic v0.1871 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.47 COA3 Zornitza Stark Marked gene: COA3 as ready
Mitochondrial disease v0.47 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Classified gene: COL1A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1141 COA3 Zornitza Stark Marked gene: COA3 as ready
Mendeliome v0.1141 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.47 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Mendeliome v0.1141 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Mendeliome v0.1140 COA3 Zornitza Stark Publications for gene: COA3 were set to
Mendeliome v0.1139 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1138 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Mendeliome v0.1138 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.46 COA3 Zornitza Stark Publications for gene: COA3 were set to
Mendeliome v0.1137 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.45 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.44 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Mitochondrial disease v0.44 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.43 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Marked gene: COA3 as ready
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Publications for gene: COA3 were set to 25604084
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Publications for gene: COA3 were set to
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1866 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1866 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1137 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Mendeliome v0.1137 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1137 CNTN3 Zornitza Stark Phenotypes for gene: CNTN3 were changed from to Intellectual disability
Mendeliome v0.1136 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Mendeliome v0.1135 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1134 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Mendeliome v0.1134 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1133 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Marked gene: CLPP as ready
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Intellectual disability syndromic and non-syndromic v0.1863 CLPP Zornitza Stark Publications for gene: CLPP were set to
Intellectual disability syndromic and non-syndromic v0.1862 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Classified gene: CLPP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CLPP Zornitza Stark reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 23541340; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Intellectual disability syndromic and non-syndromic v0.1859 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Intellectual disability syndromic and non-syndromic v0.1858 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Classified gene: CHRNA4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CHRNA4 Zornitza Stark reviewed gene: CHRNA4: Rating: RED; Mode of pathogenicity: None; Publications: 14623738; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1856 CHD1 Zornitza Stark edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.13 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1855 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to IMAGE syndrome, MIM# 614732
Intellectual disability syndromic and non-syndromic v0.1853 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGE syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1133 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Mendeliome v0.1133 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1133 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1132 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Mendeliome v0.1131 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Mendeliome v0.1130 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Mendeliome v0.1130 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1129 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1850 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Intellectual disability syndromic and non-syndromic v0.1849 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507
Intellectual disability syndromic and non-syndromic v0.1846 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Intellectual disability syndromic and non-syndromic v0.1845 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1844 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Classified gene: CARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1843 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 30139652; 25787132
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672
Review for gene: CARS2 was set to GREEN
Added comment: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list
Ataxia - adult onset v0.15 IFRD1 Bryony Thompson Marked gene: IFRD1 as ready
Ataxia - adult onset v0.15 IFRD1 Bryony Thompson Gene: ifrd1 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.15 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 28601596; 19409521
Phenotypes for gene: IFRD1 were set to Spinocerebellar ataxia 18 MIM#607458
Review for gene: IFRD1 was set to RED
Added comment: The variant (c.514 A>G, p.I172V) was identified in a 5-generation American family of Irish ancestry with sensorimotor neuropathy with ataxia in two affected individuals sequenced. It is too common (0.3%) for a dominant condition in the African population in gnomAD. The same variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a Chinese family. No functional analyses of the variant has been conducted. A different variant (c.4C>G p.Pro2Ala) in the gene has been identified in a case with isolated palatal tremor, with no ataxia in the case or reported in the family. SCA18 is currently mapped to the genomic region on OMIM, not this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Intellectual disability syndromic and non-syndromic v0.1841 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Classified gene: CANT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desbuquois dysplasia 1, MIM# 251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1129 LIPN Zornitza Stark Marked gene: LIPN as ready
Mendeliome v0.1129 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Mendeliome v0.1129 LIPN Zornitza Stark Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Mendeliome v0.1128 LIPN Zornitza Stark Publications for gene: LIPN were set to
Mendeliome v0.1127 LIPN Zornitza Stark Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1126 LIPN Zornitza Stark Classified gene: LIPN as Red List (low evidence)
Mendeliome v0.1126 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Mendeliome v0.1125 LIPN Zornitza Stark reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.4 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to RED
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition.
Sources: Literature
Vascular Malformations_Germline v0.62 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Ichthyosis v0.69 LIPN Zornitza Stark Marked gene: LIPN as ready
Ichthyosis v0.69 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Ichthyosis v0.69 LIPN Zornitza Stark Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Ichthyosis v0.68 LIPN Zornitza Stark Publications for gene: LIPN were set to
Ichthyosis v0.67 LIPN Zornitza Stark Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.66 LIPN Zornitza Stark Classified gene: LIPN as Red List (low evidence)
Ichthyosis v0.66 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Ichthyosis v0.65 LIPN Zornitza Stark reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Marked gene: CA5A as ready
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Intellectual disability syndromic and non-syndromic v0.1838 CA5A Zornitza Stark Publications for gene: CA5A were set to
Ichthyosis v0.65 EBP Zornitza Stark Marked gene: EBP as ready
Ichthyosis v0.65 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Ichthyosis v0.65 CLDN1 Zornitza Stark Marked gene: CLDN1 as ready
Ichthyosis v0.65 CLDN1 Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis v0.65 CLDN1 Zornitza Stark Classified gene: CLDN1 as Green List (high evidence)
Ichthyosis v0.65 CLDN1 Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis v0.64 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Ichthyosis v0.64 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.64 GTF2H5 Zornitza Stark Classified gene: GTF2H5 as Amber List (moderate evidence)
Ichthyosis v0.64 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.63 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Ichthyosis v0.63 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Red List (Low Evidence).
Ichthyosis v0.63 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Ichthyosis v0.63 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Ichthyosis v0.63 SUMF1 Zornitza Stark Classified gene: SUMF1 as Green List (high evidence)
Ichthyosis v0.63 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Ichthyosis v0.62 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Ichthyosis v0.62 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
Ichthyosis v0.62 SULT2B1 Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14 MIM#617571
Ichthyosis v0.61 SULT2B1 Zornitza Stark Publications for gene: SULT2B1 were set to
Ichthyosis v0.60 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.59 ST14 Zornitza Stark Marked gene: ST14 as ready
Ichthyosis v0.59 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Ichthyosis v0.59 ST14 Zornitza Stark Classified gene: ST14 as Green List (high evidence)
Ichthyosis v0.59 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Ichthyosis v0.58 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Ichthyosis v0.58 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis v0.58 SPINK5 Zornitza Stark Classified gene: SPINK5 as Green List (high evidence)
Ichthyosis v0.58 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis v0.57 SLC27A4 Zornitza Stark Marked gene: SLC27A4 as ready
Ichthyosis v0.57 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Ichthyosis v0.57 SLC27A4 Zornitza Stark Classified gene: SLC27A4 as Green List (high evidence)
Ichthyosis v0.57 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Ichthyosis v0.56 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 MIM#617115 to Peeling skin syndrome 5 MIM#617115
Ichthyosis v0.56 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Ichthyosis v0.56 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Green List (High Evidence).
Ichthyosis v0.56 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5 MIM#617115
Ichthyosis v0.55 SERPINB8 Zornitza Stark Publications for gene: SERPINB8 were set to
Ichthyosis v0.54 SERPINB8 Zornitza Stark Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1125 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Mendeliome v0.1125 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Mendeliome v0.1125 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Mendeliome v0.1125 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Mendeliome v0.1124 SDR9C7 Zornitza Stark gene: SDR9C7 was added
gene: SDR9C7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Ichthyosis v0.53 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Ichthyosis v0.53 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Ichthyosis v0.53 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Ichthyosis v0.53 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Ichthyosis v0.52 POMP Zornitza Stark Marked gene: POMP as ready
Ichthyosis v0.52 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Ichthyosis v0.52 POMP Zornitza Stark Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952
Ichthyosis v0.51 POMP Zornitza Stark Tag 5'UTR tag was added to gene: POMP.
Ichthyosis v0.51 POMP Zornitza Stark Publications for gene: POMP were set to
Ichthyosis v0.51 POMP Zornitza Stark Mode of inheritance for gene: POMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.50 PHYH Zornitza Stark Marked gene: PHYH as ready
Ichthyosis v0.50 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Ichthyosis v0.50 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ichthyosis v0.50 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Ichthyosis v0.50 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Ichthyosis v0.50 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Ichthyosis v0.50 NSDHL Zornitza Stark Classified gene: NSDHL as Green List (high evidence)
Ichthyosis v0.50 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Ichthyosis v0.49 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Ichthyosis v0.49 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Ichthyosis v0.49 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Ichthyosis v0.49 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Ichthyosis v0.48 KDSR Zornitza Stark Marked gene: KDSR as ready
Ichthyosis v0.48 KDSR Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.48 KDSR Zornitza Stark Classified gene: KDSR as Amber List (moderate evidence)
Ichthyosis v0.48 KDSR Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.47 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Ichthyosis v0.47 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Ichthyosis v0.47 GJB4 Zornitza Stark Phenotypes for gene: GJB4 were changed from to Erythrokeratodermia variabilis et progressiva 2 MIM#617524
Ichthyosis v0.46 GJB4 Zornitza Stark Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.45 GJB4 Zornitza Stark Classified gene: GJB4 as Red List (low evidence)
Ichthyosis v0.45 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Ichthyosis v0.44 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Ichthyosis v0.44 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Ichthyosis v0.44 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1 MIM#133200
Ichthyosis v0.43 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis v0.42 GJB3 Zornitza Stark Classified gene: GJB3 as Red List (low evidence)
Ichthyosis v0.42 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Ichthyosis v0.41 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Ichthyosis v0.41 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Ichthyosis v0.41 GJB2 Zornitza Stark Classified gene: GJB2 as Green List (high evidence)
Ichthyosis v0.41 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Ichthyosis v0.40 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Ichthyosis v0.40 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Ichthyosis v0.40 ERCC2 Zornitza Stark Classified gene: ERCC2 as Green List (high evidence)
Ichthyosis v0.40 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Added comment: Comment when marking as ready: Monoallelic variants associated with ID; bi-allelic variants associated with neuropathy/spastic paraplegia phenotypes.
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9, MIM#614255
Intellectual disability syndromic and non-syndromic v0.1836 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Intellectual disability syndromic and non-syndromic v0.1835 KIF1A Zornitza Stark Mode of pathogenicity for gene: KIF1A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1834 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Atrial fibrillation, familial, 3 607554; Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, 192500; Short QT syndrome 2 609621
Long QT Syndrome v0.2 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Long QT Syndrome v0.2 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT Syndrome v0.1 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 3 607554, Jervell and Lange-Nielsen syndrome 220400, Long QT syndrome 1, 192500, Short QT syndrome 2 609621; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1123 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Mendeliome v0.1123 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Mendeliome v0.1123 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Gene: krit1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to
Mendeliome v0.1122 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Mendeliome v0.1121 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 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 v0.1120 ACSL4 Zornitza Stark reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889465, 12525535; Phenotypes: Mental retardation, X-linked 63, MIM# 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Callosome v0.68 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Callosome v0.68 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Added comment: Comment when marking as ready: At least three unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Intellectual disability syndromic and non-syndromic v0.1832 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Intellectual disability syndromic and non-syndromic v0.1831 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 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)
Callosome v0.68 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Callosome v0.67 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Callosome v0.66 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.65 RBBP8 Zornitza Stark Classified gene: RBBP8 as Red List (low evidence)
Callosome v0.65 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Red List (Low Evidence).
Callosome v0.64 RBBP8 Zornitza Stark reviewed gene: RBBP8: Rating: RED; Mode of pathogenicity: None; Publications: 21998596; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 ACVRL1 Bryony Thompson Marked gene: ACVRL1 as ready
Vascular Malformations_Germline v0.60 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.60 TEK Bryony Thompson Marked gene: TEK as ready
Vascular Malformations_Germline v0.60 TEK Bryony Thompson Gene: tek has been classified as Green List (High Evidence).
Mendeliome v0.1120 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Mendeliome v0.1120 RBBP8 Zornitza Stark Added comment: Comment when marking as ready: Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Additional variant in ClinVar, so overall rating Green.
Mendeliome v0.1120 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Mendeliome v0.1120 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Mendeliome v0.1119 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to 21998596
Mendeliome v0.1118 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Mendeliome v0.1117 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.39 CLDN1 Bryony Thompson gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN1 were set to 12164927; 11889141; 29146216
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Review for gene: CLDN1 was set to GREEN
Added comment: A rare syndromic ichthyosis that has been reported ~15 cases with at least 3 different variants since 2004. A Cldn1 null mouse has an abnormal epidermal barrier.
Sources: Literature
Mendeliome v0.1116 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Mendeliome v0.1116 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Mendeliome v0.1116 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM#122470
Mendeliome v0.1115 NIPBL Zornitza Stark Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1829 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1828 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type
Intellectual disability syndromic and non-syndromic v0.1827 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 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 v0.1826 HUWE1 Zornitza Stark reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Turner type; 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 v0.1114 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Mendeliome v0.1114 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Mendeliome v0.1114 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome
Mendeliome v0.1113 HUWE1 Zornitza Stark Publications for gene: HUWE1 were set to
Mendeliome v0.1112 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 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 v0.1111 FLNA Zornitza Stark Marked gene: FLNA as ready
Mendeliome v0.1111 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Mendeliome v0.1111 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to ?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia
Mendeliome v0.1110 FLNA Zornitza Stark Publications for gene: FLNA were set to
Mendeliome v0.1109 FLNA Zornitza Stark Mode of inheritance for gene: FLNA 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)
Ichthyosis v0.38 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 30359777; 24986372
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395
Review for gene: GTF2H5 was set to AMBER
Added comment: Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138; LAMA2-related muscular dystrophy (suggested by PMID: 30055037)
Intellectual disability syndromic and non-syndromic v0.1825 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Intellectual disability syndromic and non-syndromic v0.1824 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1108 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Mendeliome v0.1108 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Mendeliome v0.1108 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
Mendeliome v0.1107 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1106 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Mendeliome v0.1106 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Mendeliome v0.1106 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Mendeliome v0.1105 DNAH11 Zornitza Stark Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1104 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Mendeliome v0.1104 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Mendeliome v0.1104 ELOVL1 Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Mendeliome v0.1103 ELOVL1 Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1102 ELOVL1 Zornitza Stark reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.37 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 9012405; 28913623
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive MIM#616390
Review for gene: ERCC3 was set to RED
Added comment: Gene has been reported to cause a syndromic ichthyosis, but there is only one report of ichthyosis in a single case. Ichthyosis is more prevalent in Trichothiodystrophy 1, which is caused by ERCC2.
Sources: Literature
Ichthyosis v0.36 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Ichthyosis v0.36 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Ichthyosis v0.36 ELOVL1 Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Ichthyosis v0.35 ELOVL1 Zornitza Stark Publications for gene: ELOVL1 were set to
Ichthyosis v0.34 ELOVL1 Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1102 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Mendeliome v0.1102 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Mendeliome v0.1102 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Mendeliome v0.1101 CLDN10 Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1100 CLDN10 Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.33 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Ichthyosis v0.33 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Ichthyosis v0.33 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Ichthyosis v0.32 CLDN10 Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.32 SUMF1 Bryony Thompson gene: SUMF1 was added
gene: SUMF1 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 30124108; 28566233; 25222778; 24339620
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis
Review for gene: SUMF1 was set to GREEN
Added comment: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder with ichthyosis as a prominent feature. >3 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Marked gene: EBP as ready
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Added comment: Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1823 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
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1822 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)
Intellectual disability syndromic and non-syndromic v0.1821 EBP Zornitza Stark Tag somatic tag was added to gene: EBP.
Intellectual disability syndromic and non-syndromic v0.1821 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)
Ichthyosis v0.31 EBP Zornitza Stark Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant MIM#302960 to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome
Ichthyosis v0.30 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Ichthyosis v0.30 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Ichthyosis v0.29 SULT2B1 Bryony Thompson reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14 MIM#617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.53 CACNA2D3 Zornitza Stark Marked gene: CACNA2D3 as ready
Autism v0.53 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Autism v0.53 CACNA2D3 Zornitza Stark Publications for gene: CACNA2D3 were set to
Autism v0.52 CACNA2D3 Zornitza Stark Classified gene: CACNA2D3 as Red List (low evidence)
Autism v0.52 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Marked gene: CACNA2D3 as ready
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association.
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Autism v0.51 CACNA2D3 Zornitza Stark reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: 31275518, 22542183, 23375656; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Publications for gene: CACNA2D3 were set to
Ichthyosis v0.29 ST14 Bryony Thompson gene: ST14 was added
gene: ST14 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 17273967; 18843291; 18445049; 30982314
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Review for gene: ST14 was set to GREEN
Added comment: >3 families with biallelic variants reported.
Sources: Expert list
Mendeliome v0.1099 CACNA2D3 Zornitza Stark Classified gene: CACNA2D3 as Red List (low evidence)
Mendeliome v0.1099 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Mendeliome v0.1098 CSTA Zornitza Stark Marked gene: CSTA as ready
Mendeliome v0.1098 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Mendeliome v0.1098 CSTA Zornitza Stark Phenotypes for gene: CSTA were changed from to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis
Mendeliome v0.1097 CSTA Zornitza Stark Publications for gene: CSTA were set to
Mendeliome v0.1096 CSTA Zornitza Stark Mode of inheritance for gene: CSTA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1095 CSTA Zornitza Stark reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944047, 23534700, 25400170; Phenotypes: Peeling skin syndrome 4 MIM#607936, exfoliative ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.28 CSTA Zornitza Stark Marked gene: CSTA as ready
Ichthyosis v0.28 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Ichthyosis v0.28 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Ichthyosis v0.28 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Desmosomal disorders v0.4 CDSN Zornitza Stark Marked gene: CDSN as ready
Desmosomal disorders v0.4 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Desmosomal disorders v0.4 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Desmosomal disorders v0.3 CDSN Zornitza Stark Publications for gene: CDSN were set to
Desmosomal disorders v0.2 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Desmosomal disorders v0.1 CDSN Zornitza Stark reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1095 CDSN Zornitza Stark Marked gene: CDSN as ready
Mendeliome v0.1095 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Mendeliome v0.1095 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Ichthyosis v0.27 SPINK5 Bryony Thompson gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 10712206; 15590704; 31977080
Phenotypes for gene: SPINK5 were set to Netherton syndrome MIM#256500
Review for gene: SPINK5 was set to GREEN
Added comment: Netherton syndrome is a severe autosomal recessive disorder characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. >3 families reported and an animal model recapitulating the phenotype.
Sources: Expert list
Mendeliome v0.1094 CDSN Zornitza Stark Publications for gene: CDSN were set to
Mendeliome v0.1093 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1092 CDSN Zornitza Stark reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.26 CDSN Zornitza Stark Marked gene: CDSN as ready
Ichthyosis v0.26 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Ichthyosis v0.26 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Ichthyosis v0.26 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Mendeliome v0.1092 CASP14 Zornitza Stark Marked gene: CASP14 as ready
Mendeliome v0.1092 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1092 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Mendeliome v0.1092 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1091 CASP14 Zornitza Stark gene: CASP14 was added
gene: CASP14 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP14 were set to 27494380; 23014340; 17515931
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Review for gene: CASP14 was set to AMBER
Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert Review
Ichthyosis v0.25 CASP14 Zornitza Stark Marked gene: CASP14 as ready
Ichthyosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.25 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Ichthyosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis v0.25 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Ichthyosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Marked gene: LIPE as ready
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Mendeliome v0.1090 LIPE Zornitza Stark Marked gene: LIPE as ready
Mendeliome v0.1090 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Mendeliome v0.1090 LIPE Zornitza Stark Classified gene: LIPE as Green List (high evidence)
Mendeliome v0.1090 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy_Lipoatrophy v0.3 LIPE Zornitza Stark Publications for gene: LIPE were set to
Lipodystrophy_Lipoatrophy v0.2 LIPE Zornitza Stark Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Mendeliome v0.1088 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Mendeliome v0.1087 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.24 SLC27A4 Bryony Thompson gene: SLC27A4 was added
gene: SLC27A4 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A4 were set to 12697906; 19631310; 31168818
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome MIM#608649
Review for gene: SLC27A4 was set to GREEN
Added comment: >3 families reported
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1820 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Intellectual disability syndromic and non-syndromic v0.1819 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1818 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Green List (high evidence)
Ichthyosis v0.23 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Mendeliome v0.1086 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Mendeliome v0.1086 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Intellectual disability syndromic and non-syndromic v0.1817 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Intellectual disability syndromic and non-syndromic v0.1816 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Mendeliome v0.1086 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Mendeliome v0.1086 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Mendeliome v0.1085 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Mendeliome v0.1084 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1083 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erithroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.22 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Ichthyosis v0.22 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Ichthyosis v0.22 ABHD5 Zornitza Stark Classified gene: ABHD5 as Green List (high evidence)
Ichthyosis v0.22 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Mendeliome v0.1082 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Ichthyosis v0.21 SERPINB8 Bryony Thompson reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1081 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1080 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Intellectual disability syndromic and non-syndromic v0.1814 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Ichthyosis v0.21 SDR9C7 Bryony Thompson gene: SDR9C7 was added
gene: SDR9C7 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1813 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1812 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.78 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Microcephaly v0.78 TUBGCP6 Zornitza Stark Added comment: Comment when marking as ready: Originally reported in Mennonite families (founder effect) but three unrelated families reported subsequently.
Microcephaly v0.78 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Microcephaly v0.78 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Microcephaly v0.77 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Microcephaly v0.76 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Marked gene: GNAS as ready
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia (103580); Pseudohypoparathyroidism Ib (603233); Pseudohypoparathyroidism Ic (612462); Pseudopseudohypoparathyroidism (612463)
Intellectual disability syndromic and non-syndromic v0.1811 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1080 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Mendeliome v0.1079 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Mendeliome v0.1078 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1077 MYT1L Zornitza Stark reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28859103; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Intellectual disability syndromic and non-syndromic v0.1809 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Intellectual disability syndromic and non-syndromic v0.1808 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Mitochondrial disease v0.42 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.41 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299, Leigh-like presentation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1077 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mendeliome v0.1077 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Mendeliome v0.1077 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Mendeliome v0.1076 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1075 ARSA Zornitza Stark Marked gene: ARSA as ready
Mendeliome v0.1075 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Mendeliome v0.1075 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM#250100
Mendeliome v0.1074 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.20 POMP Bryony Thompson reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Ichthyosis v0.20 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYH were set to 25604618; 9326940
Phenotypes for gene: PHYH were set to Refsum disease MIM#266500
Review for gene: PHYH was set to RED
Added comment: Ichthyosis is reported as a variable feature of Refsum disease. However, ichthyosis is only reported in a single case with biallelic PHYH variants. This finding is present in a minority of affected individuals, and is not the main diagnostic feature.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Mendeliome v0.1073 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Mendeliome v0.1073 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1806 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Mendeliome v0.1073 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal to Myopathy, actin, congenital, with cores, MIM#161800; Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Myopathy, congenital, with fiber-type disproportion 1, MIM#255310; Nemaline myopathy 3, MIM#161800; ?Myopathy, scapulohumeroperoneal
Mendeliome v0.1072 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal
Mendeliome v0.1071 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to
Mendeliome v0.1070 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis v0.19 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 12522768
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B MIM#614879
Review for gene: PEX7 was set to RED
Added comment: Ichthyosis is reported as a variable finding of Refsum disease, but it has not been reported in cases with PEX7 biallelic variants.
Sources: Expert list
Ichthyosis v0.18 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 10710235; 26459993
Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Congenital hemidysplasia with ichthyosiform nevus and limb defects
Review for gene: NSDHL was set to GREEN
Added comment: Ichthyosis is a feature of the syndrome. >3 unrelated families/cases have been reported.
Sources: Expert list
Ichthyosis v0.17 MBTPS2 Bryony Thompson gene: MBTPS2 was added
gene: MBTPS2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 19361614; 21426410
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia
Review for gene: MBTPS2 was set to GREEN
Added comment: Ichthyosis is part of the IFAP triad that is used to diagnose the syndrome. >3 unrelated families/males reported.
Sources: Expert list
Ichthyosis v0.16 KDSR Bryony Thompson gene: KDSR was added
gene: KDSR was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589
Phenotypes for gene: KDSR were set to Harlequin ichthyosis
Review for gene: KDSR was set to AMBER
Added comment: Two unrelated cases with harlequin ichthyosis and thrombocytopenia. These are the only reports associated with ichthyosis, more cases have been reported with palmoplantar keratoderma and erythrokeratoderma.
Sources: Expert list
Ichthyosis v0.15 GJB4 Bryony Thompson reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 2 MIM#617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis v0.15 GJB3 Bryony Thompson reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 1 MIM#133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis v0.15 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 11912510
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210
Review for gene: GJB2 was set to GREEN
Added comment: Ichthyosis can be prominent feature of some of the conditions caused by this gene. >3 unrelated cases have been reported. Mostly de novo variants have been reported in association with ichthyosis.
Sources: Expert list
Ichthyosis v0.14 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 9651581; 30580289; 27862069; 25002996; 20944642
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)
Review for gene: ERCC2 was set to GREEN
Added comment: Ichthyosis can be a feature of the condition, and has been reported in >3 unrelated families. Mouse model recapitulates phenotype including skin abnormalities. Trichothiodystrophy 1has been characterised as a syndromic ichthyosis
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1805 KIF1A Michelle Torres reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28970574, PMID: 22258533, PMID 31488895, PMID 31512412; Phenotypes: 1. Mental retardation, autosomal dominant 9 614255 AD, 2. Neuropathy, hereditary sensory, type IIC 614213 AR, 3. Spastic paraplegia 30, autosomal recessive 610357 AR, 4. Hereditary spastic paraplegia, AD (PMID 31488895), 5. Rett syndrome (typical) AD (PMID 31512412); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT Syndrome v0.1 KCNQ1 Michelle Torres reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301308; Phenotypes: 1. Atrial fibrillation, familial, 3 607554 AD, 2. Jervell and Lange-Nielsen syndrome 220400 AR, 3. Long QT syndrome 1 192500 AD, 4. Short QT syndrome 2 609621 AD, 5. {Long QT syndrome 1, acquired, susceptibility to} 192500 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 KRIT1 Ee Ming Wong reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29593473, PMID: 16571644; Phenotypes: 1. Cavernous malformations of CNS and retina, 116860, AD, 2. Cerebral cavernous malformations-1, 116860, AD, 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1805 ACSL4 Michelle Torres reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:12525535; Phenotypes: 1. Mental retardation, X-linked 63 300387 XLD; 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 v0.1069 RBBP8 Elena Savva reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21998596; Phenotypes: Jawad syndrome, Seckel syndrome 2, Pancreatic carcinoma, somatic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 NIPBL Elena Savva reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1805 CAMTA1 Michelle Torres reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1069 HUWE1 Elena Savva reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30797980, 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type, Say-Meyer syndrome; 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 v0.1069 FLNA Elena Savva reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30089473; Phenotypes: ?FG syndrome 2, XL, Cardiac valvular dysplasia, X-linked, Congenital short bowel syndrome, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, 1, Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Terminal osseous dysplasia; 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 v0.1069 LIPE Kristin Rigbye gene: LIPE was added
gene: LIPE was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Review for gene: LIPE was set to GREEN
gene: LIPE was marked as current diagnostic
Added comment: LIPE is confirmed to be associated with partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1805 LAMA2 Michelle Torres reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30055037; Phenotypes: 1) Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 AR 2), Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 AR, 3 LAMA2-related muscular dystrophy (suggested by PMID: 30055037); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 WDR35 Elena Savva reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 DNAH11 Elena Savva reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.13 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ichthyosis v0.12 ELOVL1 Bryony Thompson Deleted their comment
Ichthyosis v0.12 ELOVL1 Bryony Thompson edited their review of gene: ELOVL1: Added comment: Ichthyosis is a prominent feature of the condition. 2 unrelated cases with an identical heterozygous de novo ELOVL1 mutation (c.494C>T, NM_001256399; p.S165F) not deriving from a founder allele. Enzyme activity abrogated in patient cells. Elovl1 -/- mice died shortly after birth due to epidermal barrier defects. Reduced very long chain fatty acids were reduced in tissues.; Changed publications: 30487246, 29496980, 23689133
Mendeliome v0.1069 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Intellectual disability syndromic and non-syndromic v0.1805 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1068 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Mendeliome v0.1068 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Ichthyosis v0.12 ELOVL1 Bryony Thompson reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30487246, 29496980; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1804 IRF2BPL Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1068 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Mendeliome v0.1068 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Mendeliome v0.1068 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Mendeliome v0.1068 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Mendeliome v0.1068 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Mendeliome v0.1067 FGF3 Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1066 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Mendeliome v0.1065 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Mendeliome v0.1064 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis v0.12 CLDN10 Bryony Thompson reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM#270400
Skeletal Dysplasia_Fetal v0.13 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.41 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Mitochondrial disease v0.41 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.41 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Mendeliome v0.1063 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Mitochondrial disease v0.40 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Mendeliome v0.1062 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Mendeliome v0.1061 IARS Zornitza Stark Marked gene: IARS as ready
Mendeliome v0.1061 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Mitochondrial disease v0.40 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.39 LONP1 Zornitza Stark reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636596; Phenotypes: CODAS syndrome, MIM#600373, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1803 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Mendeliome v0.1061 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Mendeliome v0.1060 PHF8 Zornitza Stark Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis v0.12 EBP Bryony Thompson gene: EBP was added
gene: EBP was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 10391218; 30135486; 25846959
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant MIM#302960
Review for gene: EBP was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition. Mouse model recapitulates phenotype of condition. >3 unrelated cases/families with condition
Sources: Expert list
Mendeliome v0.1059 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1802 PHF8 Zornitza Stark Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1801 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Added comment: Comment when marking as ready: Joint stiffness and limitations described as part of the phenotype.
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Mendeliome v0.1059 IARS Zornitza Stark Publications for gene: IARS were set to
Mendeliome v0.1058 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Mendeliome v0.1058 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Mendeliome v0.1058 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Mendeliome v0.1057 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Mendeliome v0.1056 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Marked gene: IARS as ready
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Mendeliome v0.1055 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 IARS Zornitza Stark Marked gene: IARS as ready
Cholestasis v0.6 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1800 IARS Zornitza Stark Publications for gene: IARS were set to
Intellectual disability syndromic and non-syndromic v0.1799 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1798 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Publications for gene: TUBA1A were set to
Cholestasis v0.6 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Arthrogryposis v0.20 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Lissencephaly and Band Heterotopia v0.20 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM#611603
Cholestasis v0.5 IARS Zornitza Stark Publications for gene: IARS were set to
Cholestasis v0.4 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.19 TUBA1A Zornitza Stark Mode of pathogenicity for gene: TUBA1A was changed from to Other
Lissencephaly and Band Heterotopia v0.18 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 CACNA2D3 Michelle Torres reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31275518, PMID: 22542183, PMID: 23375656; Phenotypes: NA; Mode of inheritance: Unknown
Ichthyosis v0.11 CSTA Bryony Thompson gene: CSTA was added
gene: CSTA was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 21944047; 23534700; 25400170
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis
Review for gene: CSTA was set to GREEN
Added comment: Exfoliative ichthyosis is a prominent feature of the condition. >3 unrelated families reported.
Sources: Expert list
Ichthyosis v0.10 CDSN Bryony Thompson gene: CDSN was added
gene: CDSN was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 24794518; 18436651; 20691404; 21191406
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Review for gene: CDSN was set to GREEN
Added comment: At least 3 unrelated families reported with biallelic/homozygous variants. Cdsn -/- mice died within several hours after birth with skin defects consistent with dehydration caused by defective skin barrier function.
Sources: Expert list
Ichthyosis v0.9 CASP14 Bryony Thompson gene: CASP14 was added
gene: CASP14 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP14 were set to 27494380; 23014340; 17515931
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Review for gene: CASP14 was set to AMBER
Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert list
Lipodystrophy_Lipoatrophy v0.1 LIPE Kristin Rigbye changed review comment from: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.; to: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Lipodystrophy_Lipoatrophy v0.1 LIPE Kristin Rigbye reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27862896, 25475467, 24848981; Phenotypes: Lipodystrophy, familial partial, type 6, 615980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v0.8 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Review for gene: ALDH3A2 was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition, and >30 biallelic variant carriers have been reported
Sources: Expert list
Ichthyosis v0.7 ABHD5 Bryony Thompson gene: ABHD5 was added
gene: ABHD5 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 30795549
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma
Review for gene: ABHD5 was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition, and >80 cases have been reported with biallelic ABHD5 variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Autism v0.51 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Autism v0.51 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Autism v0.51 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Autism v0.51 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Autism v0.50 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Intellectual disability syndromic and non-syndromic v0.1796 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.49 SOX5 Zornitza Stark Publications for gene: SOX5 were set to 31578471
Intellectual disability syndromic and non-syndromic v0.1795 SOX5 Zornitza Stark reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31578471; Phenotypes: Lamb-Shaffer syndrome, MIM#616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.48 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Autism v0.47 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.7 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Rasopathy v0.7 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Rasopathy v0.7 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Noonan syndrome 10; Noonan syndrome 2
Rasopathy v0.6 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to
Rasopathy v0.5 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rasopathy v0.4 LZTR1 Zornitza Stark reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres Deleted their review
Microcephaly v0.75 TUBGCP6 Michelle Torres reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Noonan syndrome 10; Noonan syndrome 2; {Schwannomatosis-2, susceptibility to}
Hydrops fetalis v0.111 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to
Hydrops fetalis v0.110 LZTR1 Zornitza Stark Mode of pathogenicity for gene: LZTR1 was changed from to Other
Hydrops fetalis v0.109 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1795 MYT1L Michelle Torres reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 39 616521 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 SLC52A1 Kristin Rigbye Deleted their comment
Motor Neurone Disease v0.2 SLC52A1 Kristin Rigbye Deleted their comment
Mendeliome v0.1054 PTCH2 Kristin Rigbye Deleted their comment
Macrocephaly_Megalencephaly v0.12 PTCH2 Kristin Rigbye Deleted their comment
Mendeliome v0.1054 LIPT1 Elena Savva reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ARSA Elena Savva reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ACTA1 Elena Savva reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19562689, 15236405; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3, ?Myopathy, scapulohumeroperoneal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva Deleted their review
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: None
Autism v0.46 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Autism v0.46 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Autism v0.46 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788
Overgrowth v0.11 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Overgrowth v0.11 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Overgrowth v0.11 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Overgrowth v0.10 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788
Autism v0.45 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Mendeliome v0.1054 IRF2BPL Elena Savva reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autism v0.44 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.9 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Mendeliome v0.1054 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.12 DHCR7 Elena Savva reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.8 KMT5B Zornitza Stark reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51, MIM#617788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51
Mendeliome v0.1053 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Paroxysmal Dyskinesia v0.9 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Intellectual disability syndromic and non-syndromic v0.1794 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Paroxysmal Dyskinesia v0.8 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Paroxysmal Dyskinesia v0.7 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1793 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Paroxysmal Dyskinesia v0.6 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1792 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1791 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1052 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Mendeliome v0.1052 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Mendeliome v0.1052 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Mendeliome v0.1051 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Intellectual disability syndromic and non-syndromic v0.1790 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1050 KMT5B Elena Savva reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1050 LONP1 Elena Savva reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.19 ADAMTS10 Elena Savva reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18567016; Phenotypes: Weill-Marchesani syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1050 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Mendeliome v0.1049 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1048 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.557 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Genetic Epilepsy v0.557 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.557 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Cholestasis v0.3 IARS Elena Savva reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.556 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Genetic Epilepsy v0.555 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.554 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.17 TUBA1A Elena Savva reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30517687, 20466733; Phenotypes: Lissencephaly 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.43 SOX5 Elena Savva reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31578471; Phenotypes: Lamb-Shaffer syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hydrops fetalis v0.108 LZTR1 Elena Savva reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2, {Schwannomatosis-2, susceptibility to}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Marked gene: CAD as ready
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1789 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 25678555; 28007989; 30914295
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457
Review for gene: CAD was set to GREEN
gene: CAD was marked as current diagnostic
Added comment: Four unrelated families (two with same variant and Roma background, likely founder).
Sources: Expert list
Mendeliome v0.1048 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Mendeliome v0.1048 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Mendeliome v0.1048 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Mode of inheritance for gene: CACNG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1787 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Mendeliome v0.1047 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Mendeliome v0.1046 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Mendeliome v0.1046 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Mendeliome v0.1045 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1786 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1784 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Marked gene: GNAS as ready
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.17 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Calcium and Phosphate disorders v0.17 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.16 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, MIM# 103580
Review for gene: GNAS was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.5 Zornitza Stark removed gene:STX16 from the panel
Calcium and Phosphate disorders v0.15 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Calcium and Phosphate disorders v0.15 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Marked gene: STX16 as ready
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.13 STX16 Zornitza Stark Tag SV/CNV tag was added to gene: STX16.
Calcium and Phosphate disorders v0.13 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STX16 were set to 14561710; 15579741; 27338644; 24438374
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233
Review for gene: STX16 was set to GREEN
Added comment: Note multiple cases reported of recurrent 3-4kb deletion.
Sources: Expert list
Mendeliome v0.1045 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Mendeliome v0.1045 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Mendeliome v0.1045 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome, MIM #617450
Mendeliome v0.1044 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Mendeliome v0.1043 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome (MIM #617450)
Mendeliome v0.1042 PPM1D Zornitza Stark reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome, MIM #617450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1783 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Intellectual disability syndromic and non-syndromic v0.1782 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1042 EGFR Zornitza Stark Marked gene: EGFR as ready
Mendeliome v0.1042 EGFR Zornitza Stark Gene: egfr has been classified as Red List (Low Evidence).
Mendeliome v0.1042 EGFR Zornitza Stark Phenotypes for gene: EGFR were changed from to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069
Mendeliome v0.1041 EGFR Zornitza Stark Publications for gene: EGFR were set to
Mendeliome v0.1040 EGFR Zornitza Stark Mode of inheritance for gene: EGFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1039 EGFR Zornitza Stark Classified gene: EGFR as Red List (low evidence)
Mendeliome v0.1039 EGFR Zornitza Stark Gene: egfr has been classified as Red List (Low Evidence).
Mendeliome v0.1038 EGFR Zornitza Stark reviewed gene: EGFR: Rating: RED; Mode of pathogenicity: None; Publications: 24691054; Phenotypes: Inflammatory skin and bowel disease, neonatal, 2, OMIM # 616069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1038 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Mendeliome v0.1038 CLCNKA Zornitza Stark Gene: clcnka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1038 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Mendeliome v0.1037 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic; OMIM #613090
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Mendeliome v0.1035 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Mendeliome v0.1034 CLCNKA Zornitza Stark Classified gene: CLCNKA as Amber List (moderate evidence)
Mendeliome v0.1034 CLCNKA Zornitza Stark Gene: clcnka has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.12 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Calcium and Phosphate disorders v0.10 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Mendeliome v0.1033 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Calcium and Phosphate disorders v0.9 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Mendeliome v0.1032 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1031 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Mendeliome v0.1031 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1030 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.8 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Calcium and Phosphate disorders v0.8 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.7 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.4 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Hypercalcaemia v0.3 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Hypercalcaemia v0.2 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Hypercalcaemia v0.2 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.1 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Marked gene: PDE3A as ready
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Publications for gene: PDE3A were set to 25961942
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Publications for gene: PDE3A were set to
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.2 PDE3A Zornitza Stark reviewed gene: PDE3A: Rating: ; Mode of pathogenicity: None; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, MIM# 112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1030 SLC52A1 Kristin Rigbye commented on gene: SLC52A1
Motor Neurone Disease v0.2 SLC52A1 Kristin Rigbye commented on gene: SLC52A1
Mendeliome v0.1030 PTCH2 Kristin Rigbye commented on gene: PTCH2
Macrocephaly_Megalencephaly v0.12 PTCH2 Kristin Rigbye commented on gene: PTCH2
Mendeliome v0.1030 EGF Zornitza Stark Marked gene: EGF as ready
Mendeliome v0.1030 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v0.1030 EGF Zornitza Stark Mode of inheritance for gene: EGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1029 EGF Zornitza Stark Phenotypes for gene: EGF were changed from to Hypomagnesemia 4, renal, MIM#611718
Mendeliome v0.1028 EGF Zornitza Stark Publications for gene: EGF were set to
Mendeliome v0.1027 EGF Zornitza Stark Classified gene: EGF as Red List (low evidence)
Mendeliome v0.1027 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v0.1026 EGF Zornitza Stark reviewed gene: EGF: Rating: RED; Mode of pathogenicity: None; Publications: 17671655; Phenotypes: Hypomagnesemia 4, renal, MIM#611718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1026 CLCNKA Zornitza Stark reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM #613090; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Classified gene: CLCNKA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Added comment: Two families reported, and note digenic inheritance for Bartter postulated. PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C). PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

ID has been described for Bartter, but since gene-disease association for Bartter itself is not well established, demote to Red.; Changed rating: RED
Hypertension and Aldosterone disorders v0.2 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperaldosteronism, familial, type II 605635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1780 PPM1D Ain Roesley reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Myasthenia v0.0 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: 19251977; Phenotypes: Pierson syndrome, MIM# 609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Marked gene: CACNA2D2 as ready
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Classified gene: CACNA2D2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1779 CACNA2D2 Zornitza Stark gene: CACNA2D2 was added
gene: CACNA2D2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay, MIM#618501
Review for gene: CACNA2D2 was set to GREEN
Added comment: Multiple affected individuals reported; DD/ID is variable but present in most.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1778 CA5A Zornitza Stark Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 CA5A Zornitza Stark reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1775 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 26854863; 27008867
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.
Sources: Expert list
Mendeliome v0.1026 FST Zornitza Stark Marked gene: FST as ready
Mendeliome v0.1026 FST Zornitza Stark Gene: fst has been classified as Red List (Low Evidence).
Mendeliome v0.1026 MYRF Zornitza Stark Marked gene: MYRF as ready
Mendeliome v0.1026 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.1026 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Mendeliome v0.1026 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Marked gene: MYRF as ready
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.1025 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
gene: MYRF was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.47 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
Added comment: Multiple families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Intellectual disability syndromic and non-syndromic v0.1772 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30097616, 27094867, 26477546, 24997988; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BSND Zornitza Stark edited their review of gene: BSND: Added comment: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1771 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1769 BMPER Zornitza Stark edited their review of gene: BMPER: Added comment: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Centronuclear myopathy 2, MIM# 255200 to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1768 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1764 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Mode of pathogenicity for gene: ATP6V1A was set to Other
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Both mono-allelic and bi-allelic variants associated with ID, evidence for both LoF and GoF for the mono-allelic variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1762 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1761 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1760 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.308 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to 23543054; 29551497
Deafness_IsolatedAndComplex v0.307 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to 23543054
Deafness_IsolatedAndComplex v0.306 SLITRK6 Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29551497; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, MIM# 257920 to 3MC syndrome 1, MIM# 257920
Deafness_IsolatedAndComplex v0.305 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from to 3MC syndrome 1, MIM# 257920
Deafness_IsolatedAndComplex v0.305 MASP1 Zornitza Stark Mode of inheritance for gene: MASP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Marked gene: P2RX2 as ready
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to
Deafness_IsolatedAndComplex v0.303 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Deafness_IsolatedAndComplex v0.303 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.303 P2RX2 Zornitza Stark Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224
Deafness_IsolatedAndComplex v0.302 P2RX2 Zornitza Stark Mode of pathogenicity for gene: P2RX2 was changed from to Other
Deafness_IsolatedAndComplex v0.302 P2RX2 Zornitza Stark Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.301 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM# 615560
Deafness_IsolatedAndComplex v0.300 PAX1 Zornitza Stark Publications for gene: PAX1 were set to
Deafness_IsolatedAndComplex v0.299 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Deafness_IsolatedAndComplex v0.299 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.299 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Deafness_IsolatedAndComplex v0.299 PAX2 Zornitza Stark Gene: pax2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.299 PAX1 Zornitza Stark Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.298 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330
Deafness_IsolatedAndComplex v0.298 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Deafness_IsolatedAndComplex v0.297 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.296 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Deafness_IsolatedAndComplex v0.295 PAX2 Zornitza Stark Classified gene: PAX2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.295 PAX2 Zornitza Stark Gene: pax2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.294 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM#610896
Deafness_IsolatedAndComplex v0.294 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.293 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.293 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.293 SLC17A8 Zornitza Stark Marked gene: SLC17A8 as ready
Deafness_IsolatedAndComplex v0.293 SLC17A8 Zornitza Stark Gene: slc17a8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Phenotypes for gene: SLITRK6 were changed from to deafness and myopia, MIM#221200
Deafness_IsolatedAndComplex v0.292 SLC17A8 Zornitza Stark Publications for gene: SLC17A8 were set to
Deafness_IsolatedAndComplex v0.292 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to
Deafness_IsolatedAndComplex v0.292 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.291 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.290 SLC17A8 Zornitza Stark Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM#605583
Deafness_IsolatedAndComplex v0.289 SLC17A8 Zornitza Stark Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Gene: traf7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900 to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Deafness_IsolatedAndComplex v0.286 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Anophthalmia_Microphthalmia_Coloboma v0.46 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.46 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.286 SOX2 Zornitza Stark Publications for gene: SOX2 were set to 30262714; 16932809; 16145681
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.285 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Deafness_IsolatedAndComplex v0.284 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.283 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Deafness_IsolatedAndComplex v0.282 SOX2 Zornitza Stark Classified gene: SOX2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.282 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Classified gene: TRAF7 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Gene: traf7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to 29198720
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in > 3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in > 3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in >unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.278 TUBB4B Zornitza Stark Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1759 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
gene: FBXW11 was marked as current diagnostic
Added comment: Reported in >3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1024 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Mendeliome v0.1024 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Mendeliome v0.1024 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Mendeliome v0.1024 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Mendeliome v0.1023 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Mendeliome v0.1023 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1023 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in >3 unrelated individuals
Functional studies in zebrafish
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1022 ANAPC1 Alison Yeung Mode of inheritance for gene ANAPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.13 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.13 ANAPC1 Alison Yeung Marked gene: ANAPC1 as ready
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.13 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.12 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 reported unrelated families
Sources: Literature
Mendeliome v0.1021 ANAPC1 Alison Yeung Marked gene: ANAPC1 as ready
Mendeliome v0.1021 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Mendeliome v0.1021 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Mendeliome v0.1021 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Mendeliome v0.1020 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 unrelated families reported
Sources: Literature
Mendeliome v0.1019 RINT1 Alison Yeung Marked gene: RINT1 as ready
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1019 RINT1 Alison Yeung Classified gene: RINT1 as Green List (high evidence)
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1018 RINT1 Alison Yeung gene: RINT1 was added
gene: RINT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to PMID: 31204009
Phenotypes for gene: RINT1 were set to Recurrent acute liver failure
Review for gene: RINT1 was set to GREEN
gene: RINT1 was marked as current diagnostic
Added comment: three unrelated individuals reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1756 MADD Sue White reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097; Phenotypes: intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1756 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.41 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Marked gene: ASMT as ready
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.10 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.1017 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Mendeliome v0.1017 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1016 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Publications for gene: ASMT were set to 21251267
Mendeliome v0.1015 ASMT Zornitza Stark Marked gene: ASMT as ready
Mendeliome v0.1015 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Mendeliome v0.1015 ASMT Zornitza Stark Publications for gene: ASMT were set to
Intellectual disability syndromic and non-syndromic v0.1754 ASMT Zornitza Stark Publications for gene: ASMT were set to
Mendeliome v0.1015 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Mendeliome v0.1015 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Mendeliome v0.1014 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1752 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1752 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from MENTAL RETARDATION X-LINKED TYPE 46 to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Marked gene: ARHGEF6 as ready
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1014 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to 11017088
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Marked gene: AR as ready
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Phenotypes for gene: AR were changed from to Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1013 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Mendeliome v0.1012 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1010 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1748 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1746 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Classified gene: AR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 AR Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lymphoedema_nonsyndromic v0.6 Sue White Panel name changed from Lymphoedema to Lymphoedema_nonsyndromic
Lymphoedema_syndromic v0.0 ZNHIT3 Sue White gene: ZNHIT3 was added
gene: ZNHIT3 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Other
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565
Lymphoedema_syndromic v0.0 TTR Sue White gene: TTR was added
gene: TTR was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31118583; 30120737; 31131842; 31111153; 30878017
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Carpal tunnel syndrome, familial 115430; Dystransthyretinemic hyperthyroxinemia 145680
Lymphoedema_syndromic v0.0 MPI Sue White gene: MPI was added
gene: MPI was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Lymphoedema_syndromic v0.0 MET Sue White gene: MET was added
gene: MET was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: MET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MET were set to 18564920
Lymphoedema_syndromic v0.0 HGF Sue White gene: HGF was added
gene: HGF was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: HGF was set to Unknown
Publications for gene: HGF were set to 18564920
Lymphoedema_syndromic v0.0 CDC42 Sue White gene: CDC42 was added
gene: CDC42 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CDC42 was set to Unknown
Publications for gene: CDC42 were set to 26708094
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome 616737
Lymphoedema_syndromic v0.0 CCDC88A Sue White gene: CCDC88A was added
gene: CCDC88A was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88A were set to 26917597
Phenotypes for gene: CCDC88A were set to ?PEHO syndrome-like, 617507
Lymphoedema_syndromic v0.0 AQP1 Sue White gene: AQP1 was added
gene: AQP1 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: AQP1 was set to Unknown
Publications for gene: AQP1 were set to 11463012
Phenotypes for gene: AQP1 were set to [Blood group, Colton] 110450; Aquaporin-1 deficiency
Lymphoedema_syndromic v0.0 ALX3 Sue White gene: ALX3 was added
gene: ALX3 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 15127764
Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760
Lymphoedema_syndromic v0.0 ALG8 Sue White gene: ALG8 was added
gene: ALG8 was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 12480927; 15235028
Lymphoedema_syndromic v0.0 VEGFC Sue White gene: VEGFC was added
gene: VEGFC was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VEGFC were set to 30071673; 24744435; 23410910; 14634646
Phenotypes for gene: VEGFC were set to Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Lymphoedema_syndromic v0.0 TSC2 Sue White gene: TSC2 was added
gene: TSC2 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, somatic 606690; ?Focal cortical dysplasia, type II, somatic 607341; Tuberous sclerosis-2 613254
Lymphoedema_syndromic v0.0 TSC1 Sue White gene: TSC1 was added
gene: TSC1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1 191100; Lymphangioleiomyomatosis 606690; Focal cortical dysplasia, type II, somatic 607341
Lymphoedema_syndromic v0.0 SPRED1 Sue White gene: SPRED1 was added
gene: SPRED1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPRED1 were set to 19366998; 17704776; 19443465; 21548021; 21649642
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Lymphoedema_syndromic v0.0 SOX18 Sue White gene: SOX18 was added
gene: SOX18 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 26148450; 12740761
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Lymphoedema_syndromic v0.0 SOS2 Sue White gene: SOS2 was added
gene: SOS2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Mode of pathogenicity for gene: SOS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 SOS1 Sue White gene: SOS1 was added
gene: SOS1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 SHOC2 Sue White gene: SHOC2 was added
gene: SHOC2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair 607721
Lymphoedema_syndromic v0.0 SHANK3 Sue White gene: SHANK3 was added
gene: SHANK3 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome 606232
Lymphoedema_syndromic v0.0 RIT1 Sue White gene: RIT1 was added
gene: RIT1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RIT1 were set to 23791108; 24939608; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 RASA1 Sue White gene: RASA1 was added
gene: RASA1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 26969842; 22342634; 23650393
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 608354
Lymphoedema_syndromic v0.0 RAF1 Sue White gene: RAF1 was added
gene: RAF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAF1 were set to 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome 5 611553; LEOPARD syndrome 2 611554
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 PTPN14 Sue White gene: PTPN14 was added
gene: PTPN14 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN14 were set to 24167460; 20826270
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema, 613611
Lymphoedema_syndromic v0.0 PTPN11 Sue White gene: PTPN11 was added
gene: PTPN11 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 17497712; 12634870; 15384080; 17603483; 12529711; 15240615; 18678287; 16263833; 11704759
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1 163950; LEOPARD syndrome 1 151100
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Lymphoedema_syndromic v0.0 PPP1CB Sue White gene: PPP1CB was added
gene: PPP1CB was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2 617506
Lymphoedema_syndromic v0.0 PMM2 Sue White gene: PMM2 was added
gene: PMM2 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9762608; 15645285; 20638314; 17158594
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Lymphoedema_syndromic v0.0 PIEZO1 Sue White gene: PIEZO1 was added
gene: PIEZO1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 26333996; 26387913
Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843
Lymphoedema_syndromic v0.0 NSD1 Sue White gene: NSD1 was added
gene: NSD1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NSD1 were set to 26738611; 9781911
Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550
Lymphoedema_syndromic v0.0 NRAS Sue White gene: NRAS was added
gene: NRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRAS were set to 19775298; 19966803
Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 NF1 Sue White gene: NF1 was added
gene: NF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 19845691; 16380919; 12707950
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
Lymphoedema_syndromic v0.0 MAP2K2 Sue White gene: MAP2K2 was added
gene: MAP2K2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K2 were set to 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 MAP2K1 Sue White gene: MAP2K1 was added
gene: MAP2K1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K1 were set to 21396583; 23321623
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3 615279
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 LZTR1 Sue White gene: LZTR1 was added
gene: LZTR1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Lymphoedema_syndromic v0.0 KRAS Sue White gene: KRAS was added
gene: KRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRAS were set to 21396583
Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 KIF11 Sue White gene: KIF11 was added
gene: KIF11 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF11 were set to 22284827
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950
Lymphoedema_syndromic v0.0 IKBKG Sue White gene: IKBKG was added
gene: IKBKG was added to Lymphoedema_syndromic. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to 11242109
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Lymphoedema_syndromic v0.0 HRAS Sue White gene: HRAS was added
gene: HRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 21396583; 16969868; 16443854; 16170316
Phenotypes for gene: HRAS were set to Costello syndrome 218040
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 GJC2 Sue White gene: GJC2 was added
gene: GJC2 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJC2 were set to Lymphedema, hereditary, IC, 613480
Lymphoedema_syndromic v0.0 GJA1 Sue White gene: GJA1 was added
gene: GJA1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA1 were set to 23550541
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200
Lymphoedema_syndromic v0.0 GATA2 Sue White gene: GATA2 was added
gene: GATA2 was added to Lymphoedema_syndromic. Sources: London South GLH,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA2 were set to 21892158
Phenotypes for gene: GATA2 were set to {Myelodysplastic syndrome, susceptibility to} 614286; Emberger Syndrome 614038
Lymphoedema_syndromic v0.0 FOXC2 Sue White gene: FOXC2 was added
gene: FOXC2 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,London South GLH
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 11078474
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Lymphoedema_syndromic v0.0 FAT4 Sue White gene: FAT4 was added
gene: FAT4 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT4 were set to 24913602
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546
Lymphoedema_syndromic v0.0 CHD7 Sue White gene: CHD7 was added
gene: CHD7 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 16155193; 15300250; 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Lymphoedema_syndromic v0.0 CCBE1 Sue White gene: CCBE1 was added
gene: CCBE1 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green,London South GLH
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam Lymphangiectasia-Lymphedema Syndrome; Hennekam lymphangiectasia-lymphedema syndrome, 235510
Lymphoedema_syndromic v0.0 CBL Sue White gene: CBL was added
gene: CBL was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 19571318; 20619386; 20543203
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 BRAF Sue White gene: BRAF was added
gene: BRAF was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 21396583; 19206169
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 Sue White Added panel Lymphoedema_syndromic
Microcephaly v0.75 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Microcephaly v0.75 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Microcephaly v0.75 XRCC4 Zornitza Stark Classified gene: XRCC4 as Green List (high evidence)
Microcephaly v0.75 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Mendeliome v0.1010 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Mendeliome v0.1010 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Mendeliome v0.1010 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Mendeliome v0.1009 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Mendeliome v0.1008 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Marked gene: FDXR as ready
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Deafness_IsolatedAndComplex v0.276 FDXR Zornitza Stark Publications for gene: FDXR were set to
Deafness_IsolatedAndComplex v0.275 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.274 FDXR Zornitza Stark reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965846; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM#614134
Deafness_IsolatedAndComplex v0.273 COL9A1 Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.272 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM108300
Deafness_IsolatedAndComplex v0.271 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Deafness_IsolatedAndComplex v0.270 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Deafness_IsolatedAndComplex v0.270 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.270 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.269 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408751; Phenotypes: Stickler syndrome, type I, MIM108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.269 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to DOORS syndrome, MIM#220500; Deafness, autosomal dominant 65, MIM#616044; Deafness , autosomal recessive 86, MIM#614617
Deafness_IsolatedAndComplex v0.268 CD151 Zornitza Stark Classified gene: CD151 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.268 CD151 Zornitza Stark Gene: cd151 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.267 CD151 Zornitza Stark edited their review of gene: CD151: Added comment: Deafness not reported in the third family, downgrade to Amber.; Changed rating: AMBER
Deafness_IsolatedAndComplex v0.267 SPTBN4 Zornitza Stark Publications for gene: SPTBN4 were set to 29861105; 28540413
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Marked gene: SPTBN4 as ready
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Gene: sptbn4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Publications for gene: SPTBN4 were set to
Deafness_IsolatedAndComplex v0.265 TUBB4B Lilian Downie reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198720; Phenotypes: Leber congenital amaurosis with early-onset deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.265 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Deafness_IsolatedAndComplex v0.265 SYNE4 Zornitza Stark Marked gene: SYNE4 as ready
Deafness_IsolatedAndComplex v0.265 SYNE4 Zornitza Stark Gene: syne4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.265 SPTBN4 Zornitza Stark Phenotypes for gene: SPTBN4 were changed from to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519
Deafness_IsolatedAndComplex v0.264 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.263 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Deafness_IsolatedAndComplex v0.263 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.263 TRAF7 Lilian Downie reviewed gene: TRAF7: Rating: RED; Mode of pathogenicity: None; Publications: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.263 TBC1D24 Zornitza Stark reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 24729539, 24729547, 24387994, 24291220; Phenotypes: DOORS syndrome, MIM#220500, Deafness, autosomal dominant 65, MIM#616044, Deafness , autosomal recessive 86, MIM#614617; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.263 SYNE4 Zornitza Stark Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540
Deafness_IsolatedAndComplex v0.262 SYNE4 Zornitza Stark Publications for gene: SYNE4 were set to
Deafness_IsolatedAndComplex v0.262 SOX2 Lilian Downie reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30262714, 16932809, 16145681; Phenotypes: Anopthalmia and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.262 SNAI2 Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890
Deafness_IsolatedAndComplex v0.262 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Deafness_IsolatedAndComplex v0.262 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.262 SYNE4 Zornitza Stark Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.261 SYNE4 Zornitza Stark reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.261 SLC4A11 Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
Deafness_IsolatedAndComplex v0.260 SNAI2 Zornitza Stark Publications for gene: SNAI2 were set to
Deafness_IsolatedAndComplex v0.260 SPTBN4 Zornitza Stark Mode of inheritance for gene: SPTBN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.259 SPTBN4 Zornitza Stark reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861105, 28540413; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.259 SNAI2 Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.258 SLC4A11 Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.258 SERPINB6 Zornitza Stark Marked gene: SERPINB6 as ready
Deafness_IsolatedAndComplex v0.258 SERPINB6 Zornitza Stark Gene: serpinb6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.258 SNAI2 Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.258 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.257 SNAI2 Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.257 SLC4A11 Zornitza Stark Publications for gene: SLC4A11 were set to
Deafness_IsolatedAndComplex v0.257 SERPINB6 Zornitza Stark Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453
Deafness_IsolatedAndComplex v0.256 SLITRK6 Lilian Downie reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23543054; Phenotypes: deafness and myopia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.256 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220209; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.256 SLC17A8 Lilian Downie reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674745, 26797701, 28647561; Phenotypes: Non syndrome hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.256 SERPINB6 Zornitza Stark Publications for gene: SERPINB6 were set to
Deafness_IsolatedAndComplex v0.255 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Deafness_IsolatedAndComplex v0.255 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.255 SERPINB6 Zornitza Stark Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.254 SERPINB6 Zornitza Stark reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.254 SIX5 Lilian Downie reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: branchio-oto-renal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.253 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.253 PAX2 Lilian Downie reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16971658, 8588587; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease, type 1E 118300 to Charcot-Marie-Tooth disease, type 1E 118300
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Gene: sall1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480
Deafness_IsolatedAndComplex v0.253 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.252 SALL4 Zornitza Stark reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.252 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Deafness_IsolatedAndComplex v0.251 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.250 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.250 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Deafness_IsolatedAndComplex v0.249 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E 118300
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Added comment: Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Deafness_IsolatedAndComplex v0.248 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.248 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Classified gene: PNPT1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Classified gene: PNPT1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.246 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: None; Publications: 23084290, 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932, Deafness, autosomal recessive 70, MIM#614934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.246 PMP22 Zornitza Stark Classified gene: PMP22 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.246 PMP22 Zornitza Stark Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Deafness_IsolatedAndComplex v0.245 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: None; Publications: 8355122, 10330345, 12578939; Phenotypes: Charcot-Marie-Tooth disease, type 1E 118300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.245 PAX1 Lilian Downie reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23851939, 29681087; Phenotypes: otofaciocervical syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.245 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Deafness_IsolatedAndComplex v0.244 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Deafness_IsolatedAndComplex v0.244 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.244 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.243 PBX1 Zornitza Stark reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.243 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Optic atrophy plus syndrome, MIM# 125250
Deafness_IsolatedAndComplex v0.242 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.241 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.241 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Marked gene: OSBPL2 as ready
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67, MIM# 616340
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.239 P2RX2 Lilian Downie reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23345450, 24211385; Phenotypes: autosomal dominant deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.239 OSBPL2 Zornitza Stark Publications for gene: OSBPL2 were set to
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Classified gene: NR2F1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.238 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 19353646, 24462372; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.238 OSBPL2 Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.237 OSBPL2 Zornitza Stark reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67, MIM# 616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.237 MASP1 Lilian Downie reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.236 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.236 LHX3 Zornitza Stark Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1007 XRCC4 Crystle Lee reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25839420, 25728776; Phenotypes: Short stature, microcephaly, and endocrine dysfunction (MIM#616541); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.74 XRCC4 Crystle Lee gene: XRCC4 was added
gene: XRCC4 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to PMID: 25839420; 25728776
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Review for gene: XRCC4 was set to GREEN
Added comment: Biallelic variants reported in multiple affected families with microcephaly
Sources: Literature
Mendeliome v0.1007 AIMP2 Zornitza Stark Marked gene: AIMP2 as ready
Mendeliome v0.1007 AIMP2 Zornitza Stark Gene: aimp2 has been classified as Red List (Low Evidence).
Mendeliome v0.1007 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Mendeliome v0.1007 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Mendeliome v0.1007 SCRIB Zornitza Stark Marked gene: SCRIB as ready
Mendeliome v0.1007 SCRIB Zornitza Stark Gene: scrib has been classified as Red List (Low Evidence).
Mendeliome v0.1007 SCRIB Zornitza Stark Publications for gene: SCRIB were set to
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Marked gene: KDSR as ready
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Gene: kdsr has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4 MIM#617526 to Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Epidermolysis bullosa v0.15 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Epidermolysis bullosa v0.14 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.13 KDSR Zornitza Stark Classified gene: KDSR as Red List (low evidence)
Epidermolysis bullosa v0.13 KDSR Zornitza Stark Gene: kdsr has been classified as Red List (Low Evidence).
Mendeliome v0.1006 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Mendeliome v0.1006 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Mendeliome v0.1006 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37, MIM# 615493
Mendeliome v0.1005 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
Mendeliome v0.1004 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1003 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Mendeliome v0.1003 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Mendeliome v0.1002 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37 615493
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Intellectual disability syndromic and non-syndromic v0.1741 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Classified gene: ALX4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1739 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Classified gene: ALX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Gene: alx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1738 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Majority have normal intellectual function, demote to Amber.; Changed rating: AMBER
Genetic Epilepsy v0.554 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Genetic Epilepsy v0.554 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.1002 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.1002 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1737 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1736 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1735 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.3 Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services
Epidermolysis bullosa v0.11 FLG2 Zornitza Stark Classified gene: FLG2 as Red List (low evidence)
Epidermolysis bullosa v0.11 FLG2 Zornitza Stark Gene: flg2 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.10 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease MIM#601214; Congenital epidermolysis bullosa to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.9 JUP Zornitza Stark Marked gene: JUP as ready
Epidermolysis bullosa v0.9 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.9 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Publications for gene: JUP were set to 21320868; 29173316
Epidermolysis bullosa v0.8 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.8 JUP Zornitza Stark Publications for gene: JUP were set to
Epidermolysis bullosa v0.7 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Epidermolysis bullosa v0.6 FLG2 Bryony Thompson reviewed gene: FLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6, MIM# 618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.6 KDSR Bryony Thompson changed review comment from: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.; to: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to be better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.
Epidermolysis bullosa v0.6 FLG2 Bryony Thompson Deleted their review
Epidermolysis bullosa v0.6 KDSR Bryony Thompson reviewed gene: KDSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 4 MIM#617526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.6 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Epidermolysis bullosa v0.6 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.5 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Lymphoedema_nonsyndromic v0.5 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Lymphoedema_nonsyndromic v0.5 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.4 FLG2 Bryony Thompson reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6 MIM#618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.4 JUP Bryony Thompson reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: 21320868, 29173316; Phenotypes: Naxos disease MIM#601214, Congenital epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Marked gene: ATP6V1C2 as ready
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Gene: atp6v1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Review for gene: ATP6V1C2 was set to RED
Added comment: Single family reported, limited functional data.
Sources: Literature
Ataxia - adult onset v0.14 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1731 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31921405, 28472301, 25620733; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1000 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Mendeliome v0.1000 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Mendeliome v0.1000 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to
Intellectual disability syndromic and non-syndromic v0.1731 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG syndrome, MIM # 148050 to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.999 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Mendeliome v0.998 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.997 AGGF1 Zornitza Stark Marked gene: AGGF1 as ready
Mendeliome v0.997 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Mendeliome v0.997 AGGF1 Zornitza Stark Classified gene: AGGF1 as Red List (low evidence)
Mendeliome v0.997 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Mendeliome v0.996 AGGF1 Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pulmonary Arterial Hypertension v0.40 NOTCH3 Bryony Thompson Classified gene: NOTCH3 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.40 NOTCH3 Bryony Thompson Gene: notch3 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.39 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512
Phenotypes for gene: NOTCH3 were set to Pulmonary arterial hypertension
Mode of pathogenicity for gene: NOTCH3 was set to Other
Review for gene: NOTCH3 was set to AMBER
Added comment: Mice with homozygous deletion of Notch3 do not develop pulmonary hypertension in response to hypoxic stimulation, and pulmonary hypertension can be successfully treated in mice by administration of DAPT, a gamma-secretase inhibitor that blocks activation of Notch3 in smooth muscle cells. Suggesting a gain-of-function mechanism. Two putative gain-of-function missense identified in two PAH cases.
Sources: Literature
Mendeliome v0.996 ANKRD11 Ain Roesley reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31191201, 31337854; Phenotypes: KBG syndrome (MIM # 148050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v0.38 BMP10 Bryony Thompson Classified gene: BMP10 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.38 BMP10 Bryony Thompson Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.37 BMP10 Bryony Thompson gene: BMP10 was added
gene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP10 were set to 30578383
Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension
Review for gene: BMP10 was set to AMBER
Added comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients.
Sources: Literature
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Classified gene: SMAD4 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Added comment: Comment on list classification: Two reported cases with PAH
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Gene: smad4 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.35 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD4 were set to 21898662
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension
Review for gene: SMAD4 was set to AMBER
Added comment: A missense with reduced in vitro signalling activity and a putative splice site mutation resulting in moderate transcript loss due to compromised splicing efficiency were identified in two PAH cases.
Sources: Literature
Pulmonary Arterial Hypertension v0.34 SMAD1 Bryony Thompson Classified gene: SMAD1 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.34 SMAD1 Bryony Thompson Gene: smad1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.33 SMAD1 Bryony Thompson gene: SMAD1 was added
gene: SMAD1 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD1 were set to 21898662; 23478097
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Review for gene: SMAD1 was set to AMBER
Added comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension.
Sources: Literature
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 31913656, 30161219; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Deleted their review
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Classified gene: G6PD as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Gene: g6pd has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.31 G6PD Bryony Thompson Mode of inheritance for gene: G6PD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pulmonary Arterial Hypertension v0.30 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: G6PD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: G6PD were set to 31913656; 30161219
Phenotypes for gene: G6PD were set to Pulmonary arterial hypertension
Review for gene: G6PD was set to AMBER
Added comment: One idiopathic PAH case had a missense that resulted in severe G6PD deficiency and another case had a missense associated with a 20% decrease in G6PD function. Inhibition of G6PD activity with a potent G6PD inhibitor, decreased haematopoietic stem cells in hypoxic mice, causing pulmonary hypertension.
Sources: Literature
Pulmonary Arterial Hypertension v0.29 KLF2 Bryony Thompson gene: KLF2 was added
gene: KLF2 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF2 were set to 28188237
Phenotypes for gene: KLF2 were set to Pulmonary arterial hypertension
Review for gene: KLF2 was set to RED
Added comment: A missense variant reported in a single PAH family.
Sources: Literature
Pulmonary Arterial Hypertension v0.28 BRAP Bryony Thompson gene: BRAP was added
gene: BRAP was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAP were set to 30703135
Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension
Review for gene: BRAP was set to AMBER
Added comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function.
Sources: Literature
Pulmonary Arterial Hypertension v0.27 ABCC8 Bryony Thompson Classified gene: ABCC8 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.27 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.26 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC8 were set to 31406341; 30354297
Phenotypes for gene: ABCC8 were set to Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension
Review for gene: ABCC8 was set to GREEN
Added comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Literature
Pulmonary Arterial Hypertension v0.25 SOX17 Bryony Thompson Classified gene: SOX17 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.25 SOX17 Bryony Thompson Gene: sox17 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.24 SOX17 Bryony Thompson reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.24 GDF2 Bryony Thompson Classified gene: GDF2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.24 GDF2 Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.23 GDF2 Bryony Thompson reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31661308; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: None
Pulmonary Arterial Hypertension v0.23 ENG Bryony Thompson Classified gene: ENG as Green List (high evidence)
Pulmonary Arterial Hypertension v0.23 ENG Bryony Thompson Gene: eng has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.22 ENG Bryony Thompson reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30336550; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.22 BMPR1B Bryony Thompson reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: Other; Publications: 22374147; Phenotypes: Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.22 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.22 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.21 ATP13A3 Bryony Thompson reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31798832, 30679663, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.21 AQP1 Bryony Thompson Classified gene: AQP1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.21 AQP1 Bryony Thompson Gene: aqp1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.20 AQP1 Bryony Thompson reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.996 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Mendeliome v0.995 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Mendeliome v0.994 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.993 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Mendeliome v0.993 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Mendeliome v0.992 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Further cases identified. Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lymphoedema_nonsyndromic v0.5 CELSR1 Sue White Classified gene: CELSR1 as Green List (high evidence)
Lymphoedema_nonsyndromic v0.5 CELSR1 Sue White Gene: celsr1 has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.4 CELSR1 Sue White gene: CELSR1 was added
gene: CELSR1 was added to Lymphoedema. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 31215153
Phenotypes for gene: CELSR1 were set to lymphoedema
Penetrance for gene: CELSR1 were set to Incomplete
Review for gene: CELSR1 was set to GREEN
Added comment: nonsyndromic lymphoedema
LOF variants
Sources: Literature
Genetic Epilepsy v0.553 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Genetic Epilepsy v0.553 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.553 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from to Epileptic encephalopathy, early infantile, 15 , MIM#615006
Genetic Epilepsy v0.552 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Genetic Epilepsy v0.551 ST3GAL3 Zornitza Stark Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.550 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Amber List (moderate evidence)
Genetic Epilepsy v0.550 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.549 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Genetic Epilepsy v0.549 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Classified gene: ALDOB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 ALDOB Zornitza Stark edited their review of gene: ALDOB: Added comment: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; Changed rating: RED
Mendeliome v0.992 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Mendeliome v0.992 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Mendeliome v0.992 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Mendeliome v0.992 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Mendeliome v0.991 CTBP1 Zornitza Stark gene: CTBP1 was added
gene: CTBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
gene: CTBP1 was marked as current diagnostic
Added comment: At least 12 unrelated individuals reported with this neurodevelopmental disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1726 AHCY Zornitza Stark Publications for gene: AHCY were set to
Intellectual disability syndromic and non-syndromic v0.1725 AHCY Zornitza Stark edited their review of gene: AHCY: Changed publications: 31957987, 27671891, 30121674, 28779239
Mendeliome v0.990 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Mendeliome v0.990 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Mendeliome v0.990 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Mendeliome v0.990 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Mendeliome v0.989 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1724 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Mendeliome v0.988 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Mendeliome v0.988 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Mendeliome v0.988 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Mendeliome v0.988 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Mendeliome v0.987 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1722 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Marked gene: AGL as ready
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa, MIM# 232400
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Classified gene: AGL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 AGL Zornitza Stark reviewed gene: AGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Marked gene: CNOT1 as ready
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Classified gene: CNOT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1718 CNOT1 Sebastian Lunke gene: CNOT1 was added
gene: CNOT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: From GEL: More than three independent families previously described
Sources: Expert list
Hydrocephalus_Ventriculomegaly v0.15 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Hydrocephalus_Ventriculomegaly v0.14 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Hydrocephalus_Ventriculomegaly v0.14 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.986 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Mendeliome v0.985 CCDC88C Sebastian Lunke Publications for gene: CCDC88C were set to 25062847; 30398676
Hydrocephalus_Ventriculomegaly v0.13 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.984 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.983 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Mendeliome v0.983 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.12 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.12 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Mendeliome v0.982 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079, 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053, Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrocephalus_Ventriculomegaly v0.11 CCDC88C Zornitza Stark edited their review of gene: CCDC88C: Added comment: Three families reported with this phenotype; note also possible link to SCA, mono-allelic variants, two families.; Changed rating: GREEN; Changed publications: 23042809, 21031079; Changed phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1716 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1714 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079; Phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.982 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Mendeliome v0.982 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Mendeliome v0.981 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Marked gene: CCDC47 as ready
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1711 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM# 203750
Intellectual disability syndromic and non-syndromic v0.1710 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Classified gene: ACAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark commented on gene: ACAT1: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM# 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from 2-methylbutyrylglycinuria, MIM# 610006 to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1707 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1706 ACADSB Zornitza Stark Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Classified gene: ACADSB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 ACADSB Zornitza Stark reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, MIM# 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.980 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Mendeliome v0.980 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Mendeliome v0.980 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.979 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Mendeliome v0.978 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Mendeliome v0.977 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Mendeliome v0.977 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Mendeliome v0.976 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1702 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.976 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.976 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.975 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease
Sources: Expert Review
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.5 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Bleeding Disorders. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease.
Sources: Expert Review
Ciliary Dyskinesia v0.17 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Ciliary Dyskinesia v0.17 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.974 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Mendeliome v0.974 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.974 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Mendeliome v0.974 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.973 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Mendeliome. 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
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Ciliary Dyskinesia v0.15 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Ciliary Dyskinesia. 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
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine 617301 to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Intellectual disability syndromic and non-syndromic v0.1700 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1699 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429; Phenotypes: Glycine encephalopathy with normal serum glycine 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.972 GCSH Zornitza Stark Marked gene: GCSH as ready
Mendeliome v0.972 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Mendeliome v0.972 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM# 605899
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Marked gene: DHFR as ready
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Mendeliome v0.971 STT3B Zornitza Stark Marked gene: STT3B as ready
Mendeliome v0.971 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Mendeliome v0.971 GCSH Zornitza Stark Publications for gene: GCSH were set to
Mendeliome v0.970 GCSH Zornitza Stark Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.969 GCSH Zornitza Stark Classified gene: GCSH as Red List (low evidence)
Mendeliome v0.969 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Mendeliome v0.968 GCSH Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Genetic Epilepsy v0.549 DHFR Zornitza Stark Marked gene: DHFR as ready
Genetic Epilepsy v0.549 DHFR Zornitza Stark Gene: dhfr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.549 DHFR Zornitza Stark Classified gene: DHFR as Amber List (moderate evidence)
Genetic Epilepsy v0.549 DHFR Zornitza Stark Gene: dhfr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.968 STT3B Zornitza Stark Publications for gene: STT3B were set to 23842455
Genetic Epilepsy v0.548 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to AMBER
Added comment: Three unrelated families reported, neurological disease in some severe (including seizures), others predominantly haematological presentation.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1698 DHFR Zornitza Stark Publications for gene: DHFR were set to
Intellectual disability syndromic and non-syndromic v0.1697 DHFR Zornitza Stark Mode of inheritance for gene: DHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1696 DHFR Zornitza Stark reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.967 STT3B Zornitza Stark Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.966 STT3B Zornitza Stark Publications for gene: STT3B were set to
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Marked gene: STT3B as ready
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Mendeliome v0.965 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from Congenital disorder of glycosylation, type Ix 615597 to Congenital disorder of glycosylation, type Ix 615597
Mendeliome v0.964 STT3B Zornitza Stark Classified gene: STT3B as Red List (low evidence)
Mendeliome v0.964 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.28 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597
Congenital Disorders of Glycosylation v0.28 STT3B Zornitza Stark Publications for gene: STT3B were set to
Mendeliome v0.963 STT3B Zornitza Stark reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: 23842455; Phenotypes: Congenital disorder of glycosylation, type Ix 615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1696 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.27 STT3B Zornitza Stark Classified gene: STT3B as Red List (low evidence)
Congenital Disorders of Glycosylation v0.27 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.26 STT3B Zornitza Stark reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: 23842455; Phenotypes: Congenital disorder of glycosylation, type Ix 615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.963 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Mendeliome v0.963 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Mendeliome v0.963 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Green List (high evidence)
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Mendeliome v0.962 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Mendeliome v0.961 SLC39A8 Zornitza Stark Mode of inheritance for gene: SLC39A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.546 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Review for gene: SLC39A8 was set to GREEN
Added comment: 6 individuals from Hutterite descent and two other unrelated families reported. Seizures reported in 2 Hutterite individuals and also in the other two unrelated families.
Sources: Expert Review
Genetic Epilepsy v0.545 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Mode of inheritance for gene: SLC39A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.25 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Review for gene: SLC39A8 was set to GREEN
gene: SLC39A8 was marked as current diagnostic
Added comment: 6 individuals from Hutterite descent and two other unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Intellectual disability syndromic and non-syndromic v0.1693 SLC39A8 Zornitza Stark reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.543 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28328131; 24031089; 28777481
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Review for gene: SLC35A3 was set to AMBER
Added comment: Three families reported; seizures in two.
Sources: Expert Review
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.24 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Congenital Disorders of Glycosylation v0.24 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Classified gene: SLC35A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.541 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 28856833; 23873973; 11157507
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, MIM# 603585
Review for gene: SLC35A1 was set to AMBER
Added comment: Three unrelated families reported, neurological presentation including seizures in two.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.23 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
Congenital Disorders of Glycosylation v0.22 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Marked gene: PIGS as ready
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.21 SLC35A1 Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.20 SLC35A1 Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.540 PIGS Zornitza Stark Marked gene: PIGS as ready
Genetic Epilepsy v0.540 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1692 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Genetic Epilepsy v0.540 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Genetic Epilepsy v0.540 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.539 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Mendeliome v0.960 PIGS Zornitza Stark Marked gene: PIGS as ready
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.960 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Marked gene: PIGS as ready
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.959 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE
Sources: Expert Review
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.19 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814,
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.18 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Congenital Disorders of Glycosylation v0.17 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Marked gene: FUK as ready
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1690 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Mendeliome v0.958 FUK Zornitza Stark Marked gene: FUK as ready
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.958 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.538 FUK Zornitza Stark Marked gene: FUK as ready
Genetic Epilepsy v0.538 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.957 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.538 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Genetic Epilepsy v0.538 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.537 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported; seizures prominent part of the clinical presentation in both.
Sources: Literature
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Marked gene: FUK as ready
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.15 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.955 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1688 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.536 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Genetic Epilepsy v0.536 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317
Genetic Epilepsy v0.535 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Genetic Epilepsy v0.535 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.534 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Genetic Epilepsy v0.534 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: Seven individuals from four unrelated families; 5/7 had seizures.
Sources: Expert list
Genetic Epilepsy v0.533 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Classified gene: ZDHHC9 as Green List (high evidence)
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.531 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to 26000327
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, MIM#300799
Review for gene: ZDHHC9 was set to GREEN
gene: ZDHHC9 was marked as current diagnostic
Added comment: A third of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.530 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 21834044, 20890278, 20729831; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Genetic Epilepsy v0.529 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Genetic Epilepsy v0.528 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.527 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1686 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.526 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported, most affected individuals had seizures as part of this mitochondrial disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1684 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals. 13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.524 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
gene: VPS11 was marked as current diagnostic
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals.

13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Gene: vldlr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.522 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050
Genetic Epilepsy v0.522 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Genetic Epilepsy v0.521 VLDLR Zornitza Stark Classified gene: VLDLR as Amber List (moderate evidence)
Genetic Epilepsy v0.521 VLDLR Zornitza Stark Gene: vldlr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.520 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: None; Publications: 16174313, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.519 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Review for gene: VAMP2 was set to GREEN
gene: VAMP2 was marked as current diagnostic
Added comment: Five unrelated individuals reported, three had seizures as part of the phenotype of this neurodevelopmental condition.
Sources: Expert list
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Classified gene: TUBB2A as Green List (high evidence)
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.517 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, MIM#615763
Review for gene: TUBB2A was set to GREEN
gene: TUBB2A was marked as current diagnostic
Added comment: Seizures are part of the phenotype of the tubulinopathies.
Sources: Expert list
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 to Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Genetic Epilepsy v0.515 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Genetic Epilepsy v0.514 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Genetic Epilepsy v0.513 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.512 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481326, 19896110; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM#613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.512 TSFM Zornitza Stark Marked gene: TSFM as ready
Genetic Epilepsy v0.512 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.512 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505
Genetic Epilepsy v0.511 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia, type 2F, MIM#617026
Genetic Epilepsy v0.509 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Genetic Epilepsy v0.508 TSEN2 Zornitza Stark Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 18711368, 20952379; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM#617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Phenotypes for gene: TRRAP were changed from to Developmental delay with or without dysmorphic facies and autism, MIM#618454
Genetic Epilepsy v0.506 TRRAP Zornitza Stark Publications for gene: TRRAP were set to
Genetic Epilepsy v0.505 TRRAP Zornitza Stark Mode of inheritance for gene: TRRAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRRAP Zornitza Stark reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496, 28628100; Phenotypes: Developmental delay with or without dysmorphic facies and autism, MIM#618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Marked gene: TRPM6 as ready
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Classified gene: TRPM6 as Green List (high evidence)
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.503 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM#602014
Review for gene: TRPM6 was set to GREEN
gene: TRPM6 was marked as current diagnostic
Added comment: Can present with seizures.
Sources: Expert list
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Additional unpublished case reported by GEL PanelApp.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.500 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1679 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.497 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.496 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Genetic Epilepsy v0.495 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Classified gene: TRAF7 as Amber List (moderate evidence)
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.493 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29961569, 27479843, 28135719, 25363760, 25961944; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Marked gene: TNK2 as ready
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Gene: tnk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Phenotypes for gene: TNK2 were changed from to severe infantile onset epilepsy
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Publications for gene: TNK2 were set to
Genetic Epilepsy v0.492 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TNK2 Zornitza Stark reviewed gene: TNK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27977884, 23686771; Phenotypes: severe infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Genetic Epilepsy v0.489 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Classified gene: TMEM70 as Amber List (moderate evidence)
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.487 TMEM70 Zornitza Stark reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: None; Publications: 18953340, 21147908; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Added comment: Comment when marking as ready: At least 4 families reported, all affected individuals had seizures.
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM#617698
Genetic Epilepsy v0.486 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Genetic Epilepsy v0.485 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM#617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.483 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 24658003; 30109272; 31410782
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949
Review for gene: TDP2 was set to GREEN
gene: TDP2 was marked as current diagnostic
Added comment: At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features.
Sources: Expert list
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663
Genetic Epilepsy v0.481 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to 24239381
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Classified gene: TBC1D20 as Amber List (moderate evidence)
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.478 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.477 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878
Review for gene: TANGO2 was set to GREEN
gene: TANGO2 was marked as current diagnostic
Added comment: Seizures present in around 80% of reported individuals.
Sources: Expert list
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to 26475597; 27484306
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Classified gene: SUCLG1 as Amber List (moderate evidence)
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.473 SUCLG1 Zornitza Stark reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26475597, 27484306; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15 , MIM#615006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.472 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
gene: SPATA5 was marked as current diagnostic
Added comment: More than 15 families have been reported in multiple publications. Clinical features include intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay.
Sources: Expert list
Genetic Epilepsy v0.471 SMS Zornitza Stark Marked gene: SMS as ready
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.471 SMS Zornitza Stark Classified gene: SMS as Green List (high evidence)
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.470 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMS were set to 30237987
Phenotypes for gene: SMS were set to Mental retardation X-linked Snyder-Robinson type, 309583
Review for gene: SMS was set to GREEN
gene: SMS was marked as current diagnostic
Added comment: Seizures reported in some affected individuals.
Sources: Expert list
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence)
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.468 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA2 were set to 22366787; 22426308; 27665729
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome, MIM# 601358
Review for gene: SMARCA2 was set to GREEN
gene: SMARCA2 was marked as current diagnostic
Added comment: Seizures reported in about half of affected individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1677 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.466 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM#157170
Genetic Epilepsy v0.464 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Classified gene: SIX3 as Amber List (moderate evidence)
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.462 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.462 SHH Zornitza Stark Marked gene: SHH as ready
Genetic Epilepsy v0.462 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.462 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Hypothalamic hamartoma
Genetic Epilepsy v0.461 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to Other
Genetic Epilepsy v0.460 SHH Zornitza Stark Tag somatic tag was added to gene: SHH.
Genetic Epilepsy v0.460 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothalamic hamartoma; Mode of inheritance: Other
Genetic Epilepsy v0.460 SGSH Zornitza Stark Marked gene: SGSH as ready
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.460 SGSH Zornitza Stark Classified gene: SGSH as Green List (high evidence)
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.459 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 21061399; 30593151
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900
Review for gene: SGSH was set to GREEN
gene: SGSH was marked as current diagnostic
Added comment: Seizures reported in over half of affected individuals.
Sources: Expert list
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Marked gene: SETD1B as ready
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Gene: setd1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Publications for gene: SETD1B were set to
Genetic Epilepsy v0.457 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability
Genetic Epilepsy v0.456 SETD1B Zornitza Stark Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SETD1B Zornitza Stark reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29322246, 31440728, 31685013; Phenotypes: Epilepsy with myoclonic absences, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SDHA Zornitza Stark Marked gene: SDHA as ready
Genetic Epilepsy v0.455 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.455 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from Leigh syndrome, MIM#256000 to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.453 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Genetic Epilepsy v0.453 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.452 SDHA Zornitza Stark reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.452 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM#617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.954 RALA Zornitza Stark Marked gene: RALA as ready
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.954 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.953 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
gene: RALA was marked as current diagnostic
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.452 RALA Zornitza Stark Marked gene: RALA as ready
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.452 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.451 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225 to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.449 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.448 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Martsolf syndrome, MIM#212720, Warburg micro syndrome 2, MIM#614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM#600118
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.443 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20512159; Phenotypes: Warburg micro syndrome 1, MIM#600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.443 QDPR Zornitza Stark Marked gene: QDPR as ready
Genetic Epilepsy v0.443 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.443 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM#261630
Genetic Epilepsy v0.442 QDPR Zornitza Stark Publications for gene: QDPR were set to
Genetic Epilepsy v0.441 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 26006720; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM#261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from Pancreatic and cerebellar agenesis, MIM#609069 to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Genetic Epilepsy v0.438 PTF1A Zornitza Stark Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Classified gene: PTF1A as Amber List (moderate evidence)
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.436 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 21749365, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM#609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.436 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM#158350 to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Marked gene: PTEN as ready
Genetic Epilepsy v0.435 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Genetic Epilepsy v0.435 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Publications for gene: PTEN were set to 9832032; 29033429; 29444762
Genetic Epilepsy v0.434 PTEN Zornitza Stark Publications for gene: PTEN were set to
Genetic Epilepsy v0.434 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9832032, 29033429, 29444762; Phenotypes: Cowden syndrome 1, MIM#158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PSPH Zornitza Stark Marked gene: PSPH as ready
Genetic Epilepsy v0.433 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.433 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency, MIM#614023
Genetic Epilepsy v0.432 PSPH Zornitza Stark Publications for gene: PSPH were set to
Genetic Epilepsy v0.431 PSPH Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.430 PSPH Zornitza Stark Classified gene: PSPH as Amber List (moderate evidence)
Genetic Epilepsy v0.430 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSPH Zornitza Stark reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25080166, 26589312, 14673469; Phenotypes: Phosphoserine phosphatase deficiency, MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency, MIM#610992 to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.428 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.427 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Genetic Epilepsy v0.426 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.424 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17436247, 26610677, 26960553; Phenotypes: Phosphoserine aminotransferase deficiency, MIM#610992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.423 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354
Review for gene: PPP2CA was set to GREEN
gene: PPP2CA was marked as current diagnostic
Added comment: 16 individuals with heterozygous pathogenic PPP2CA variants. Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability. Seizures are seen in 9 of 16 individuals.
Sources: Expert list
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Classified gene: POMT2 as Amber List (moderate evidence)
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.419 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.418 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA was changed from to Other
Genetic Epilepsy v0.417 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3, MIM#614652
Genetic Epilepsy v0.415 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Classified gene: PDSS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.413 PDSS2 Zornitza Stark reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17186472, 29032433; Phenotypes: Coenzyme Q10 deficiency, primary, 3, MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.412 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 30290153; 31504246
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Review for gene: PAK1 was set to GREEN
gene: PAK1 was marked as current diagnostic
Added comment: Six unrelated individuals with de novo variants int his gene reported.
Sources: Expert list
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5 610125
Genetic Epilepsy v0.410 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Genetic Epilepsy v0.409 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Classified gene: OTX2 as Amber List (moderate evidence)
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19965921, 15846561; Phenotypes: Microphthalmia, syndromic 5 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.406 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Genetic Epilepsy v0.405 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Classified gene: NUBPL as Amber List (moderate evidence)
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.403 NUBPL Zornitza Stark reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 23553477, 20818383; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM#617201
Genetic Epilepsy v0.402 NEDD4L Zornitza Stark Publications for gene: NEDD4L were set to
Genetic Epilepsy v0.401 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28515470, 23934111, 28212375, 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.399 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Genetic Epilepsy v0.398 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Classified gene: NDUFS7 as Amber List (moderate evidence)
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS7 Zornitza Stark reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17604671, 17275378, 15269216; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.395 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Genetic Epilepsy v0.394 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 27290639; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.391 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.388 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Genetic Epilepsy v0.387 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 28853723, 19463981; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.383 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.234 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.233 MYO3A Zornitza Stark Publications for gene: MYO3A were set to
Deafness_IsolatedAndComplex v0.232 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Marked gene: GRAP as ready
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Genetic Epilepsy v0.383 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, MIM#252010 to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Genetic Epilepsy v0.381 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.379 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23266820, 22036843, 20819849; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.378 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.377 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Genetic Epilepsy v0.376 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Red List (low evidence)
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.374 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: RED; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM#618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.374 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Genetic Epilepsy v0.372 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.370 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 18513682; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.369 NDP Zornitza Stark Marked gene: NDP as ready
Genetic Epilepsy v0.369 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, MIM#310600 to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Genetic Epilepsy v0.368 NDP Zornitza Stark Publications for gene: NDP were set to
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.367 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.367 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.366 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genetic Epilepsy v0.366 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.365 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: 17334993; Phenotypes: Norrie disease, MIM#310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Marked gene: NBEA as ready
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1675 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.952 NBEA Zornitza Stark Marked gene: NBEA as ready
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.952 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.951 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder
Sources: Expert list
Genetic Epilepsy v0.365 NBEA Zornitza Stark Marked gene: NBEA as ready
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.365 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.364 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder, more than half had epilepsy.
Sources: Expert list
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Genetic Epilepsy v0.362 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Genetic Epilepsy v0.361 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Classified gene: NAA10 as Red List (low evidence)
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.359 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: RED; Mode of pathogenicity: None; Publications: 11426460; Phenotypes: Microphthalmia, syndromic 1 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.359 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Marked gene: MTR as ready
Genetic Epilepsy v0.358 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.358 MTR Zornitza Stark Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Publications for gene: MTR were set to
Genetic Epilepsy v0.357 MTR Zornitza Stark Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MTR Zornitza Stark Deleted their comment
Genetic Epilepsy v0.356 MTR Zornitza Stark commented on gene: MTR: Seizures are part of the phenotype of this metabolic disorder.
Genetic Epilepsy v0.356 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25526710, 9683607, 28666289; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Classified gene: MFSD8 as Green List (high evidence)
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.355 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD8 were set to 30249282; 30144815; 30301600; 28586915
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Review for gene: MFSD8 was set to GREEN
gene: MFSD8 was marked as current diagnostic
Added comment: Seizures are a common feature of this neurodegenerative disorder.
Sources: Expert list
Genetic Epilepsy v0.354 MANBA Zornitza Stark Marked gene: MANBA as ready
Genetic Epilepsy v0.354 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.353 MANBA Zornitza Stark Publications for gene: MANBA were set to
Genetic Epilepsy v0.352 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM#248510
Genetic Epilepsy v0.351 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.350 MANBA Zornitza Stark Classified gene: MANBA as Amber List (moderate evidence)
Genetic Epilepsy v0.350 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.349 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 12468273, 22369051; Phenotypes: Mannosidosis, beta, MIM#248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lymphoedema_nonsyndromic v0.3 PTPN14 Zornitza Stark Marked gene: PTPN14 as ready
Lymphoedema_nonsyndromic v0.3 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.3 PTPN14 Zornitza Stark Classified gene: PTPN14 as Green List (high evidence)
Lymphoedema_nonsyndromic v0.3 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1673 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo, likely GoF variants in this gene.
Sources: Expert list
Mendeliome v0.950 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Mendeliome v0.950 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.949 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.15 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.7 PRKN Michelle Torres reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16476817, PMID: 14519684; Phenotypes: Parkinson disease, juvenile, type 2 600116 AR, Adenocarcinoma of lung, somatic 211980, Ovarian cancer, somatic 167000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.348 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.347 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, MIM#214500 to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Marked gene: LYST as ready
Genetic Epilepsy v0.346 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.346 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Publications for gene: LYST were set to
Genetic Epilepsy v0.345 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.344 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Genetic Epilepsy v0.344 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LYST Zornitza Stark reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 10450360; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.343 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.343 LNPK Zornitza Stark Marked gene: LNPK as ready
Genetic Epilepsy v0.343 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LNPK Zornitza Stark Publications for gene: LNPK were set to 30032983
Genetic Epilepsy v0.342 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.342 LNPK Zornitza Stark Publications for gene: LNPK were set to
Genetic Epilepsy v0.342 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Classified gene: SOX18 as Red List (low evidence)
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Gene: sox18 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.341 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Genetic Epilepsy v0.341 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.340 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.339 LNPK Zornitza Stark reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Classified gene: BMPR1B as Red List (low evidence)
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Classified gene: TBX4 as Red List (low evidence)
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Gene: tbx4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1672 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.339 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Green List (High Evidence).
Mendeliome v0.948 Zornitza Stark removed gene:LNP1 from the panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Classified gene: SOX17 as Red List (low evidence)
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Gene: sox17 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Classified gene: SMAD9 as Red List (low evidence)
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Added comment: Comment on list classification: Moved to the pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Gene: smad9 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Lymphoedema_nonsyndromic v0.2 PTPN14 Bryony Thompson gene: PTPN14 was added
gene: PTPN14 was added to Lymphoedema. Sources: Expert list
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN14 were set to 20826270; https://doi.org/10.1016/j.mgene.2017.07.006
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema MIM#613611
Review for gene: PTPN14 was set to GREEN
Added comment: Two unrelated consanguineous middle eastern families reported with choanal atresia and lymphedema, and different homozygous variants. The Ptpn14-/- mouse model manifects lymphatic hyperplasia with lymphedema.
Sources: Expert list
Genetic Epilepsy v0.336 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840
Genetic Epilepsy v0.336 LIPT2 Zornitza Stark Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LIPT2 Zornitza Stark reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28757203; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.333 KPTN Zornitza Stark Marked gene: KPTN as ready
Genetic Epilepsy v0.333 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from to Mental retardation, autosomal recessive 4, MIM#1615637
Genetic Epilepsy v0.332 KPTN Zornitza Stark Publications for gene: KPTN were set to
Genetic Epilepsy v0.331 KPTN Zornitza Stark Mode of inheritance for gene: KPTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Marked gene: PTPN14 as ready
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Classified gene: PTPN14 as Red List (low evidence)
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Added comment: Comment on list classification: No evidence for vascular malformations. The gene has been added to the lymphoedema panel.
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.330 KPTN Zornitza Stark Classified gene: KPTN as Amber List (moderate evidence)
Genetic Epilepsy v0.330 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.329 KPTN Zornitza Stark reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25847626, 24239382; Phenotypes: Mental retardation, autosomal recessive 4, MIM#1615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson reviewed gene: PTPN14: Rating: RED; Mode of pathogenicity: None; Publications: 22233626, 29932521; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson Deleted their review
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Classified gene: PIEZO1 as Red List (low evidence)
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Gene: piezo1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Classified gene: KIF11 as Red List (low evidence)
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Gene: kif11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Classified gene: KCNK3 as Red List (low evidence)
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Added comment: Comment on list classification: Moved to the Pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Classified gene: GJC2 as Red List (low evidence)
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Gene: gjc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Classified gene: GATA2 as Red List (low evidence)
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Gene: gata2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Classified gene: FOXC2 as Red List (low evidence)
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Gene: foxc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Classified gene: FLT4 as Red List (low evidence)
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Gene: flt4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Classified gene: FAT4 as Red List (low evidence)
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Gene: fat4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Red List (low evidence)
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Classified gene: CCBE1 as Red List (low evidence)
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Gene: ccbe1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Classified gene: CAV1 as Red List (low evidence)
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Gene: cav1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Classified gene: BMPR2 as Red List (low evidence)
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Red List (low evidence)
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Classified gene: AQP1 as Red List (low evidence)
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Gene: aqp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Classified gene: KMT2E as Green List (high evidence)
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.328 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2E were set to 31079897
Phenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures
Review for gene: KMT2E was set to GREEN
gene: KMT2E was marked as current diagnostic
Added comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures.
Sources: Expert list
Genetic Epilepsy v0.327 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome, MIM# 609460 to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to 28277559
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Classified gene: KIF1BP as Amber List (moderate evidence)
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 KIF1BP Zornitza Stark reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.947 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Mendeliome v0.947 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Mendeliome v0.947 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from to Lissencephaly 6, with microcephaly, MIM# 616212
Mendeliome v0.946 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Mendeliome v0.945 KATNB1 Zornitza Stark Mode of inheritance for gene: KATNB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.944 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Mendeliome v0.944 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.944 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Mendeliome v0.943 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Mendeliome v0.942 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.941 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Mendeliome v0.941 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.940 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Intellectual disability syndromic and non-syndromic v0.1670 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, MIM# 616580
Intellectual disability syndromic and non-syndromic v0.1669 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.107 HNRNPK Sue White Classified gene: HNRNPK as Green List (high evidence)
Hydrops fetalis v0.107 HNRNPK Sue White Gene: hnrnpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.106 HNRNPK Sue White edited their review of gene: HNRNPK: Set current diagnostic: yes
Hydrops fetalis v0.106 HNRNPK Sue White gene: HNRNPK was added
gene: HNRNPK was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
Added comment: case presentation of patient and literature review shows patients can present with hydrops
Sources: Other
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1666 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.13 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Genetic Epilepsy v0.323 ISPD Zornitza Stark Marked gene: ISPD as ready
Genetic Epilepsy v0.323 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.322 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.321 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.320 ISPD Zornitza Stark Classified gene: ISPD as Amber List (moderate evidence)
Genetic Epilepsy v0.320 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 ISPD Zornitza Stark reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome
Genetic Epilepsy v0.318 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome
Genetic Epilepsy v0.317 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Genetic Epilepsy v0.316 HPRT1 Zornitza Stark Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Classified gene: HPRT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.314 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27858372; Phenotypes: Lesch-Nyhan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.314 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Classified gene: HOXA1 as Amber List (moderate evidence)
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.311 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.940 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.940 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.939 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.310 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.309 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v0.308 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Genetic Epilepsy v0.308 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCCS Zornitza Stark Marked gene: HCCS as ready
Genetic Epilepsy v0.307 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.307 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.306 HCCS Zornitza Stark Publications for gene: HCCS were set to
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, MIM#616198 to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.306 HCCS Zornitza Stark Added comment: Comment on mode of inheritance: XLD
Genetic Epilepsy v0.306 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to Other
Genetic Epilepsy v0.305 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.304 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed mode of pathogenicity: Other; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Genetic Epilepsy v0.304 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Genetic Epilepsy v0.304 HCCS Zornitza Stark Classified gene: HCCS as Amber List (moderate evidence)
Genetic Epilepsy v0.304 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.303 HCCS Zornitza Stark reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: Other
Genetic Epilepsy v0.303 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.302 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence)
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Marked gene: GSS as ready
Genetic Epilepsy v0.300 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Genetic Epilepsy v0.300 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
gene: GTPBP2 was marked as current diagnostic
Added comment: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list
Genetic Epilepsy v0.299 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.298 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.7 USB1 Zornitza Stark Marked gene: USB1 as ready
Phagocyte Defects v0.7 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.6 USB1 Zornitza Stark Publications for gene: USB1 were set to
Phagocyte Defects v0.6 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.938 USB1 Zornitza Stark Marked gene: USB1 as ready
Mendeliome v0.938 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Mendeliome v0.938 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Mendeliome v0.937 USB1 Zornitza Stark Publications for gene: USB1 were set to
Mendeliome v0.936 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.105 LCAT Zornitza Stark Marked gene: LCAT as ready
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Mendeliome v0.935 USB1 Ain Roesley reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25044170, 27612988; Phenotypes: Poikiloderma with neutropenia (OMIM #604173); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.105 LCAT Zornitza Stark Classified gene: LCAT as Green List (high evidence)
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Proteinuria v0.104 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900
Review for gene: LCAT was set to GREEN
gene: LCAT was marked as current diagnostic
Added comment: Disorder of lipoprotein metabolism presents with a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Sources: Expert list
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Classified gene: TBX4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.19 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Review for gene: TBX4 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition caused by this gene.
Sources: Expert list
Proteinuria v0.103 GLA Zornitza Stark Marked gene: GLA as ready
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.18 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3 MIM#613674
Proteinuria v0.103 GLA Zornitza Stark Classified gene: GLA as Green List (high evidence)
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Classified gene: SMAD9 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Gene: smad9 has been classified as Green List (High Evidence).
Proteinuria v0.102 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 18033242
Phenotypes for gene: GLA were set to Fairy disease, MIM# 301500
Review for gene: GLA was set to GREEN
Added comment: Glomerular disease and proteinuria well documented manifestations of Fabry.
Sources: Expert list
Pulmonary Arterial Hypertension v0.16 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342
Review for gene: SMAD9 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.14 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344
Review for gene: KCNK3 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.13 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
Pulmonary Arterial Hypertension v0.12 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.10 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2 MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Pulmonary hypertension is a feature of the condition
Sources: Expert list
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Classified gene: CAV1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Added comment: Comment on list classification: Heterozygous variants cause PAH
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.8 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3 MIM#615343
Review for gene: CAV1 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Classified gene: BMPR2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.6 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450
Review for gene: BMPR2 was set to GREEN
Added comment: PAH is the major feature.
Sources: Expert list
Pulmonary Arterial Hypertension v0.5 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR1B was set to Unknown
Phenotypes for gene: BMPR1B were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.4 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ATP13A3 was set to Unknown
Pulmonary Arterial Hypertension v0.3 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Classified gene: ACVRL1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.1 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition.
Sources: Expert list
Pulmonary Arterial Hypertension v0.0 Bryony Thompson Added Panel Pulmonary Arterial Hypertension
Set panel types to: Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Classified gene: CEP164 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.20 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Bardet Biedl syndrome. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15, MIM# 614845
Review for gene: CEP164 was set to AMBER
gene: CEP164 was marked as current diagnostic
Added comment: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list
Mendeliome v0.935 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Mendeliome v0.935 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Mendeliome v0.935 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Mendeliome v0.934 GNB5 Zornitza Stark Publications for gene: GNB5 were set to
Mendeliome v0.933 GNB5 Zornitza Stark Mode of inheritance for gene: GNB5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1664 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.297 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Epilepsy is a reported feature in a number of individuals.
Sources: Expert list
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria, MIM# 220120
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Genetic Epilepsy v0.295 GLYCTK Zornitza Stark Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.294 GLYCTK Zornitza Stark reviewed gene: GLYCTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 3588091, 30637540, 28462797, 20949620, 28190537; Phenotypes: D-glyceric aciduria, MIM# 220120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.13 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.293 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals, all had seizures as part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.292 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599; 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599, 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Genetic Epilepsy v0.289 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20858599, 20818383, 31434271; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FKRP Zornitza Stark Marked gene: FKRP as ready
Genetic Epilepsy v0.288 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.288 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.287 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.286 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.285 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Genetic Epilepsy v0.285 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.284 FKRP Zornitza Stark reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Polymicrogyria, bilateral temporooccipital, MIM#612691 to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Genetic Epilepsy v0.282 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Classified gene: FIG4 as Red List (low evidence)
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.280 FIG4 Zornitza Stark reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: 24598713; Phenotypes: Polymicrogyria, bilateral temporooccipital, MIM#612691; Mode of inheritance: None
Genetic Epilepsy v0.280 FH Zornitza Stark Marked gene: FH as ready
Genetic Epilepsy v0.280 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.280 FH Zornitza Stark Phenotypes for gene: FH were changed from Fumarase deficiency, MIM#606812 to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Phenotypes for gene: FH were changed from to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Publications for gene: FH were set to 20301679; 10805328; 20549362; 15221078; 16151915
Genetic Epilepsy v0.278 FH Zornitza Stark Publications for gene: FH were set to
Genetic Epilepsy v0.278 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301679, 10805328, 20549362, 15221078, 16151915; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.276 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.275 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.274 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
Genetic Epilepsy v0.273 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24630288, 27485793, 23649205, 12794698; Phenotypes: Hypochondroplasia, MIM#146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families, functional data; seizures were a presenting feature.
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Phenotypes for gene: FDFT1 were changed from to Squalene synthase deficiency, MIM# 618156
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Publications for gene: FDFT1 were set to
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FDFT1 Zornitza Stark reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: Squalene synthase deficiency, MIM# 618156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Classified gene: FBXO11 as Green List (high evidence)
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.269 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO11 were set to 30057029; 29796876
Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Review for gene: FBXO11 was set to GREEN
gene: FBXO11 was marked as current diagnostic
Added comment: Seizures are a feature of ~25% of reported individuals with this condition.
Sources: Expert list
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.267 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Genetic Epilepsy v0.266 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence)
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.932 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Mendeliome v0.932 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.932 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Mendeliome v0.931 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Mendeliome v0.930 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1662 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.929 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Mendeliome v0.929 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1661 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.928 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1659 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.263 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.262 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.260 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.259 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
gene: EIF3F was marked as current diagnostic
Added comment: 9 patients with intellectual disability from 7 nonconsang families of European ancestry - all hom for the same mutation in EIF3 (Phe232Val); 6/9 had seizures. This variant is one of the most common protein altering variants in the gene and is present at an allele freq of 0.12% but never hom in Non-Finnish Europeans in gnomAD. Functional studies also done on this variant.
Sources: Expert list
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Green List (high evidence)
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.257 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536
Review for gene: EFTUD2 was set to GREEN
Added comment: Approximately a third of affected individuals are reported as having seizures.
Sources: Expert list
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Mendeliome v0.928 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Mendeliome v0.928 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216
Mendeliome v0.927 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.926 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.925 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Mendeliome v0.925 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.250 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.250 DOLK Zornitza Stark Marked gene: DOLK as ready
Genetic Epilepsy v0.250 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.250 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation type Im, 610768 to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Publications for gene: DOLK were set to
Genetic Epilepsy v0.248 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23890587, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.246 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.245 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Classified gene: DNAJC6 as Amber List (moderate evidence)
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.243 DNAJC6 Zornitza Stark reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.924 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Mendeliome v0.924 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.924 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Mendeliome v0.923 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.922 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Mendeliome v0.921 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Mendeliome v0.921 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Marked gene: MAP4K4 as ready
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Classified gene: MAP4K4 as Red List (low evidence)
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.919 MAP4K4 Zornitza Stark reviewed gene: MAP4K4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.242 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features; seizures are part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1658 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported, EE/DD. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Literature
Mendeliome v0.919 NAGA Zornitza Stark Marked gene: NAGA as ready
Mendeliome v0.919 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Mendeliome v0.919 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)
Mendeliome v0.918 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.917 NAGA Zornitza Stark Publications for gene: NAGA were set to
Mendeliome v0.916 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.916 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.915 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.915 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.914 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 RAB11B Zornitza Stark Deleted their review
Mendeliome v0.913 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29100083; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1656 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 NAGA Ain Roesley reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281; Phenotypes: Kanzaki disease (MIM # 609242), Schindler disease, type I or III (MIM# 609241); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Gene: rab11a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.241 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to RED
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, only one had seizures. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 DHPS Zornitza Stark Marked gene: DHPS as ready
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Marked gene: DHPS as ready
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.913 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.912 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1654 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Genetic Epilepsy v0.240 DHPS Zornitza Stark Marked gene: DHPS as ready
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.240 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.239 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1652 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHDDS were set to 29100083
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype.
Sources: Expert list
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.237 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 29100083; 27343064
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, MIM#613861
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals with mono-allelic variants and a neurodevelopmental phenotype including seizures; one family with compound het variants and CDG phenotype, seizures a prominent feature of the clinical phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1650 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: Multiple affected families, DD/ID is part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.235 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
gene: DEGS1 was marked as current diagnostic
Added comment: Seizures are a prominent feature of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.233 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Classified gene: DEAF1 as Green List (high evidence)
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.231 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DEAF1 were set to 30923367; 26048982; 28940898; 26834045
Phenotypes for gene: DEAF1 were set to Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828
Review for gene: DEAF1 was set to GREEN
gene: DEAF1 was marked as current diagnostic
Added comment: Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions.
Sources: Expert list
Mendeliome v0.911 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Mendeliome v0.911 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.911 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.910 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to 24664471
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.909 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Intellectual disability; autism
Mendeliome v0.908 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Mendeliome v0.908 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Mendeliome v0.907 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1648 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Marked gene: DDOST as ready
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1646 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1646 DDOST Zornitza Stark Publications for gene: DDOST were set to
Intellectual disability syndromic and non-syndromic v0.1645 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.907 DDOST Zornitza Stark Marked gene: DDOST as ready
Mendeliome v0.907 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.907 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.906 DDOST Zornitza Stark Publications for gene: DDOST were set to
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Marked gene: DDOST as ready
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.905 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.11 DDOST Zornitza Stark Publications for gene: DDOST were set to
Mendeliome v0.904 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Mendeliome v0.904 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.903 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.10 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.8 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.11 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Cataract v0.11 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.1 Bryony Thompson Panel name changed from Skeletal Muscle Channelopathies_RMH to Skeletal Muscle Channelopathies
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Cataract v0.10 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Cataract. Sources: Literature
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype.
Sources: Literature
Mendeliome v0.903 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Mendeliome v0.903 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.903 PIK3C2A Zornitza Stark Mode of inheritance for gene: PIK3C2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.902 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Mendeliome v0.902 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.901 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported.
Sources: Expert list
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Marked gene: ADI1 as ready
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Classified gene: ADI1 as Red List (low evidence)
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.7 ADI1 Zornitza Stark reviewed gene: ADI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.900 FGF16 Zornitza Stark Marked gene: FGF16 as ready
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.900 FGF16 Zornitza Stark Classified gene: FGF16 as Green List (high evidence)
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.899 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, MIM# 309630
Review for gene: FGF16 was set to GREEN
gene: FGF16 was marked as current diagnostic
Added comment: Sources: Expert list
Autism v0.43 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.43 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.42 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.898 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.898 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.64 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.64 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.64 GAS1 Zornitza Stark Publications for gene: GAS1 were set to 21842183; 20583177
Callosome v0.63 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Callosome v0.62 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Callosome v0.61 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.60 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.60 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.59 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.897 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Mendeliome v0.897 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.896 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Mendeliome v0.895 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Mendeliome v0.894 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Mendeliome v0.894 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.893 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.12 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.10 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.8 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.893 IMMP2L Zornitza Stark Marked gene: IMMP2L as ready
Mendeliome v0.893 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.893 IMMP2L Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism
Mendeliome v0.892 IMMP2L Zornitza Stark Publications for gene: IMMP2L were set to
Mendeliome v0.891 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.890 IMMP2L Zornitza Stark Classified gene: IMMP2L as Red List (low evidence)
Mendeliome v0.890 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.889 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.889 PTPRR Zornitza Stark Marked gene: PTPRR as ready
Mendeliome v0.889 PTPRR Zornitza Stark Gene: ptprr has been classified as Red List (Low Evidence).
Mendeliome v0.889 STAT4 Zornitza Stark Marked gene: STAT4 as ready
Mendeliome v0.889 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.229 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Review for gene: DLL1 was set to GREEN
Added comment: Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.227 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Mendeliome v0.889 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Mendeliome v0.889 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Mendeliome v0.888 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1641 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Classified gene: CUL4B as Green List (high evidence)
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).