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Intellectual disability syndromic and non-syndromic v0.1975 GEMIN4 Zornitza Stark reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 30237576; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1974 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1972 GBA Zornitza Stark reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type II 230900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1971 GAN Zornitza Stark Mode of inheritance for gene: GAN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1969 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1968 GABRA2 Zornitza Stark gene: GABRA2 was added
gene: GABRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849; 31032848
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, 618557
Review for gene: GABRA2 was set to GREEN
gene: GABRA2 was marked as current diagnostic
Added comment: Six unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1966 GABBR2 Zornitza Stark gene: GABBR2 was added
gene: GABBR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213
Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Review for gene: GABBR2 was set to GREEN
gene: GABBR2 was marked as current diagnostic
Added comment: At least 7 unrelated individuals reported, missense variants only, A707T and A567T (recurrent).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1963 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1962 HNRNPU Zornitza Stark reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54, MIM#617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Intellectual disability syndromic and non-syndromic v0.1960 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1958 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: RED; Mode of pathogenicity: None; Publications: 20717171; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1956 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1955 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1954 FTO Zornitza Stark Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1950 FTO Zornitza Stark reviewed gene: FTO: Rating: ; Mode of pathogenicity: None; Publications: 19559399, 26378117; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM# 612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1949 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRRS1L were set to 27236917; 27239025
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, MIM#616981
Review for gene: FRRS1L was set to GREEN
Added comment: Five unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1945 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1943 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1941 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1940 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CATSHL syndrome 610474, Hypochondroplasia 146000, SADDAN 616482, Muenke syndrome 602849, Thanatophoric dysplasia, type I 187600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1940 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812909; Phenotypes: Hartsfield syndrome, MIM# 615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1939 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1937 RALGAPA1 Zornitza Stark gene: RALGAPA1 was added
gene: RALGAPA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.
Review for gene: RALGAPA1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1935 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1933 FGF14 Zornitza Stark reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 27, MIM# 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1933 FDXR Zornitza Stark reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1932 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1930 FANCG Zornitza Stark reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group G, MIM# 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1930 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1928 FANCD2 Zornitza Stark edited their review of gene: FANCD2: Added comment: Clinical presentation is typically with congenital abnormalities/BMF. Only ~10% have ID as part of the phenotype.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1927 FANCB Zornitza Stark reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1927 ERCC4 Zornitza Stark changed review comment from: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progressed syndrome.; to: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progeroid syndrome.
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Intellectual disability syndromic and non-syndromic v0.1925 EPB41L1 Zornitza Stark Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1923 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1922 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180
Review for gene: EMG1 was set to AMBER
Added comment: Founder mutation in Hutterite, D86G.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1920 EMC1 Zornitza Stark gene: EMC1 was added
gene: EMC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 26942288; 29271071
Phenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Review for gene: EMC1 was set to GREEN
gene: EMC1 was marked as current diagnostic
Added comment: Four unrelated families with bi-allelic variants in this gene reported. Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1914 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1913 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1912 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1908 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: RED; Mode of pathogenicity: None; Publications: 19576565, 28803818, 30931530, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1906 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1904 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
Intellectual disability syndromic and non-syndromic v0.1902 DNAJC3 Zornitza Stark Mode of inheritance for gene: DNAJC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1898 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 v0.1896 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 v0.1895 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
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 v0.1889 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 v0.1888 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
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
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
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 Phenotypes for gene: CRBN were changed from to Mental retardation, autosomal recessive 2, MIM# 607417
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 v0.1877 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 v0.1876 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1872 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 v0.1871 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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 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 v0.1866 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
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 v0.1862 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1860 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 v0.1858 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 v0.1856 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 v0.1855 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 v0.1853 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 v0.1851 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
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 v0.1847 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 v0.1845 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 v0.1843 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
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 v0.1839 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
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 v0.1834 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)
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 v0.1827 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)
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 v0.1824 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.1822 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 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)
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
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
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 v0.1813 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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 v0.1776 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 v0.1775 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
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 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 v0.1767 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1766 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 v0.1764 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 v0.1761 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
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 v0.1756 MADD Sue White reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097; Phenotypes: intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v0.1748 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 v0.1746 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 v0.1745 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
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 v0.1742 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 v0.1741 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1739 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 v0.1738 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Majority have normal intellectual function, demote to Amber.; Changed rating: AMBER
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 v0.1735 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1733 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
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 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 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
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
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
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 v0.1724 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
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 v0.1720 AGL Zornitza Stark Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1719 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 v0.1718 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
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 v0.1714 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
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 v0.1710 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1708 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 v0.1706 ACADSB Zornitza Stark Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1704 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
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 v0.1702 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
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 v0.1700 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 v0.1667 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
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
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
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
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
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
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
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
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
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
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
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
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 v0.1646 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 v0.1645 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1643 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
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
Intellectual disability syndromic and non-syndromic v0.1639 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1637 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1636 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1634 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703
Phenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features
Review for gene: NTNG2 was set to GREEN
Added comment: 16 individuals from 7 unrelated families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1632 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1630 TP73 Zornitza Stark gene: TP73 was added
gene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284
Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1628 SMG8 Zornitza Stark gene: SMG8 was added
gene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1626 IQSEC3 Zornitza Stark gene: IQSEC3 was added
gene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1624 ICE1 Zornitza Stark gene: ICE1 was added
gene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1621 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: two unrelated families reported, no functional data
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1619 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Reported in three unrelated individuals
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1615 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1614 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1612 POLA1 Alison Yeung gene: POLA1 was added
gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLA1 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: POLA1 were set to PMID: 31006512
Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: Five unrelated families reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1609 GPC4 Alison Yeung gene: GPC4 was added
gene: GPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GPC4 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: GPC4 were set to PMID: 30982611
Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026
Review for gene: GPC4 was set to GREEN
gene: GPC4 was marked as current diagnostic
Added comment: >3 unrelated individuals reported, functional studies in mice
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1607 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Review for gene: CARS was set to GREEN
gene: CARS was marked as current diagnostic
Added comment: Three reported unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1605 MAPK8IP3 Alison Yeung gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
gene: MAPK8IP3 was marked as current diagnostic
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1602 NCAPG2 Alison Yeung gene: NCAPG2 was added
gene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1600 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1598 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown gene: HK1 was added
gene: HK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to PMID: 30778173
Mode of pathogenicity for gene: HK1 was set to Other
Review for gene: HK1 was set to GREEN
Added comment: 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1589 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1587 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
Added comment: 7 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1577 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1575 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1572 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1569 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1566 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1564 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1562 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1560 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000
Intellectual disability syndromic and non-syndromic v0.1557 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1549 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1546 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1543 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Intellectual disability syndromic and non-syndromic v0.1542 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1536 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic missense and LOF variants reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1533 STAG2 Dean Phelan gene: STAG2 was added
gene: STAG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: STAG2 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: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690
Added comment: 12 unrelated families reported both males and females affected (OMIM).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1531 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1530 FOXP1 Michelle Torres reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26633542, PMID: 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1530 COASY Michelle Torres reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24360804, PMID: 30089828; Phenotypes: Neurodegeneration with brain iron accumulation 6 615643, Pontocerebellar hypoplasia, type 12 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Intellectual disability syndromic and non-syndromic v0.1527 EXTL3 Zornitza Stark Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1526 EXTL3 Zornitza Stark reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1524 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1522 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1518 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1517 ASXL3 Ain Roesley reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Intellectual disability syndromic and non-syndromic v0.1515 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1511 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1510 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: TATTON-BROWN-RAHMAN SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Intellectual disability syndromic and non-syndromic v0.1508 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1507 SETD5 Ain Roesley reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDC3 were set to 29685133; 25701870
Phenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM# 616460
Review for gene: EDC3 was set to RED
Added comment: Single family reported; some functional data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1501 PUS3 Zornitza Stark gene: PUS3 was added
gene: PUS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 30308082; 28454995; 27055666; 30697592; 31444731
Phenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051
Review for gene: PUS3 was set to GREEN
Added comment: Seven individuals from five families reported; two of the families had the same homozygous truncating variant. Variable features reported in addition to ID, including leukoencephalopathy, EE, and nephropathy.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1499 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. 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
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1497 RUSC2 Zornitza Stark gene: RUSC2 was added
gene: RUSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUSC2 were set to 27612186
Phenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM# 617773
Review for gene: RUSC2 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1495 RSRC1 Zornitza Stark gene: RSRC1 was added
gene: RSRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 28640246; 29522154
Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Review for gene: RSRC1 was set to AMBER
Added comment: Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1493 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 29302074; 31564433
Phenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665
Review for gene: METTL5 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1490 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: USP27X were set to 25644381
Phenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984
Review for gene: USP27X was set to AMBER
Added comment: Four individuals from two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1488 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381; 24817631
Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982
Review for gene: KLHL15 was set to AMBER
Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1486 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 30475435
Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism
Mode of pathogenicity for gene: ODC1 was set to Other
Review for gene: ODC1 was set to GREEN
Added comment: Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1484 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
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; short stature; dysmorphism
Review for gene: RALA was set to GREEN
Added comment: Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1481 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1478 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1476 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1472 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1470 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1468 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1466 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1465 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 15494731; 27884935; 29100083
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, MIM# 613886
Review for gene: NTRK2 was set to GREEN
Added comment: Three unrelated individuals reported with this phenotype.
Note recurrent missense in this gene also causes EE.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1463 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30970188
Phenotypes for gene: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to AMBER
Added comment: Three unrelated individuals described with compound het variants, however, note one of these is a triplet expansion in the 5' UTR, this may not be tractable depending on sequencing modality.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1453 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1451 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1450 SHANK1 Sebastian Lunke reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 22503632, 25188300; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1448 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1445 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1444 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1440 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1438 COQ5 Zornitza Stark Mode of inheritance for gene: COQ5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1436 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1435 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MN1 were set to 31834374; 31839203
Phenotypes for gene: MN1 were set to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1433 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1431 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 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 v0.1429 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1429 ZSWIM6 Elizabeth Palmer reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID:: 29198722); Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES, NEDMAGA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.1428 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1426 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1425 CACNA1G Chris Richmond reviewed gene: CACNA1G: Rating: ; Mode of pathogenicity: Other; Publications: 29878067, 31836334; Phenotypes: Spinocerebellar ataxia 42 [616795], Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [618087], Infantile-Onset Syndromic Cerebellar Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Mode of inheritance for gene: SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1423 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures; dysmorphic features
Review for gene: HNRNPR was set to GREEN
Added comment: Four unrelated families with heterozygous variants in this gene and a neurodevelopmental phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1420 DSCAM Natasha Brown Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1418 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1417 PPP1R12A Zornitza Stark gene: PPP1R12A was added
gene: PPP1R12A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development
Added comment: Emerging evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1415 ANKRD17 Zornitza Stark gene: ANKRD17 was added
gene: ANKRD17 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD17 were set to Intellectual disability; dysmorphic features
Review for gene: ANKRD17 was set to AMBER
Added comment: Emerging evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1412 ZFHX3 Zornitza Stark gene: ZFHX3 was added
gene: ZFHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research
Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZFHX3 were set to Intellectual disability
Review for gene: ZFHX3 was set to GREEN
Added comment: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1410 USP7 Natasha Brown gene: USP7 was added
gene: USP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP7 were set to 30679821
Phenotypes for gene: USP7 were set to ID; Autism
Review for gene: USP7 was set to GREEN
Added comment: at least 16 individuals identified and 7 previous cases
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1408 SEC31A Tiong Tan gene: SEC31A was added
gene: SEC31A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651
Review for gene: SEC31A was set to AMBER
Added comment: Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1406 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 31449058
Phenotypes for gene: POLD1 were set to Intellectual disability; immunodeficiency
Review for gene: POLD1 was set to RED
Added comment: Single family reported with biallelic variants in this gene. Note heterozygous variants cause a different condition: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM#615771
Intellectual disability syndromic and non-syndromic v0.1399 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1398 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM#615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1397 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1394 PISD Zornitza Stark Phenotypes for gene: PISD were changed from no OMIM number yet. to Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities; no OMIM number yet.
Intellectual disability syndromic and non-syndromic v0.1392 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1389 GNAI1 Zornitza Stark Mode of inheritance for gene: GNAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1388 GNAI1 Zornitza Stark reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1376 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1374 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1370 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. 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
Intellectual disability syndromic and non-syndromic v0.1368 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817,
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1366 CYFIP2 Zornitza Stark gene: CYFIP2 was added
gene: CYFIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYFIP2 were set to 29534297
Phenotypes for gene: CYFIP2 were set to Epileptic encephalopathy, early infantile, 65, MIM#618008
Review for gene: CYFIP2 was set to GREEN
Added comment: Four unrelated individuals with de novo variants in this gene. All variants affected the same highly conserved residue (arg87) in the DUF1394 domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1364 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1363 FAM160B1 Chirag Patel gene: FAM160B1 was added
gene: FAM160B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FAM160B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM160B1 were set to PMID: 31353455; 27431290
Phenotypes for gene: FAM160B1 were set to no OMIM number yet
Review for gene: FAM160B1 was set to RED
Added comment: 1 patient with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism, and homozygous truncating variant in FAM160B1. No functional studies.

1 family with 2 sibs with DD, ID, speech issues, and with homozygous missense variant in FAM160B1. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1361 FBXL3 Chirag Patel gene: FBXL3 was added
gene: FBXL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FBXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL3 were set to PubMed: 30481285
Phenotypes for gene: FBXL3 were set to Intellectual developmental disorder with short stature, facial anomalies, and speech defects; OMIM #606220
Review for gene: FBXL3 was set to AMBER
Added comment: 3 unrelated families with 8 affected individuals with ID, DD, short stature and mild facial dysmorphism, and with homozygous mutations in FBXL3. Segregated with the disorder in all 3 families. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark gene: CNTN6 was added
gene: CNTN6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Phenotypes for gene: CNTN6 were set to Intellectual disability; autism; Tourette syndrome; schizophrenia
Review for gene: CNTN6 was set to RED
Added comment: Conflicting evidence based on CNV data, no SNVs identified.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1358 FRY Chirag Patel gene: FRY was added
gene: FRY was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to PMID: 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to no OMIM number yet
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1355 GABRA5 Chirag Patel gene: GABRA5 was added
gene: GABRA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to PMID: 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1354 ADGRG6 Chirag Patel gene: ADGRG6 was added
gene: ADGRG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to PMID: 30549416
Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9; OMIM #616503
Review for gene: ADGRG6 was set to RED
Added comment: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1352 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1350 GRIA2 Chirag Patel gene: GRIA2 was added
gene: GRIA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to PMID: 31300657
Phenotypes for gene: GRIA2 were set to no OMIM number yet
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1348 GTF2E2 Chirag Patel gene: GTF2E2 was added
gene: GTF2E2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to PMID: 28973399
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; OMIM #616943
Review for gene: GTF2E2 was set to AMBER
Added comment: 2 unrelated non-photosensitive TTD families with homozygous missense mutation in GTF2E2. Functional evidence showing mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly correlates with the phenotypic aggravation of key clinical symptoms after episodes of high fever. Induced pluripotent stem cell reprogramming of patient fibroblasts followed by in vitro erythroid differentiation, showed a clear hematopoietic defect during late-stage differentiation associated with hemoglobin subunit imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1346 KDM3B Chirag Patel gene: KDM3B was added
gene: KDM3B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30929739
Phenotypes for gene: KDM3B were set to no OMIM number yet
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1344 LMAN2L Chirag Patel gene: LMAN2L was added
gene: LMAN2L was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to PMID: 31020005; 26566883
Phenotypes for gene: LMAN2L were set to ?Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1343 LSM1 Chirag Patel gene: LSM1 was added
gene: LSM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to PMID: 31010896
Phenotypes for gene: LSM1 were set to no OMIM number yet
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1341 LSS Chirag Patel gene: LSS was added
gene: LSS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to PMID: 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1340 MACROD2 Chirag Patel gene: MACROD2 was added
gene: MACROD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to PMID: 31055587
Phenotypes for gene: MACROD2 were set to no OMIM number yet
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1338 MAST1 Chirag Patel gene: MAST1 was added
gene: MAST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to PMID: 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1337 MEPCE Chirag Patel gene: MEPCE was added
gene: MEPCE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to PMID: 31467394
Phenotypes for gene: MEPCE were set to no OMIM number yet
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1335 NCAPD2 Chirag Patel gene: NCAPD2 was added
gene: NCAPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to PMID: 31056748; 27737959; 28097321
Phenotypes for gene: NCAPD2 were set to ?Microcephaly 21, primary, autosomal recessive; OMIM #617983
Review for gene: NCAPD2 was set to AMBER
Added comment: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence.

1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls.

1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1333 NFASC Chirag Patel gene: NFASC was added
gene: NFASC was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to PMID: 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1332 NLGN1 Chirag Patel gene: NLGN1 was added
gene: NLGN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to PMID: 30460678
Phenotypes for gene: NLGN1 were set to no OMIM number yet
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1330 P4HTM Chirag Patel gene: P4HTM was added
gene: P4HTM was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to PMID: 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1328 PAK1 Chirag Patel gene: PAK1 was added
gene: PAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to PMID: 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1326 PHF21A Chirag Patel gene: PHF21A was added
gene: PHF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to PMID: 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to no OMIM number yet.
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1324 PIBF1 Chirag Patel gene: PIBF1 was added
gene: PIBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous.

2 other Hutterite families with 3 affected children and same homozygous missense mutation in PIBF1 gene, suggesting a founder effect.

2 other unrelated individuals with compound heterozygous mutations in PIBF1 gene.

1 unrelated individual with compound heterozygous variants in PIBF1 gene, and functional evidence in the frog Xenopus.

1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1322 PIGB Chirag Patel gene: PIGB was added
gene: PIGB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to PubMed: 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1320 PIGU Chirag Patel gene: PIGU was added
gene: PIGU was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to PMID: 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel gene: PISD was added
gene: PISD was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to PMID: 31263216
Phenotypes for gene: PISD were set to no OMIM number yet.
Review for gene: PISD was set to AMBER
Added comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1315 POU3F3 Chirag Patel gene: POU3F3 was added
gene: POU3F3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to PMID: 24550763; 31303265
Phenotypes for gene: POU3F3 were set to no OMIM number yet.
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1313 PPP2CA Chirag Patel gene: PPP2CA was added
gene: PPP2CA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to PMID: 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1311 PUS7 Chirag Patel gene: PUS7 was added
gene: PUS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to PMID: 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.

One study showed disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness supporting that neurological defects are caused by PUS7 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1309 RNF113A Chirag Patel gene: RNF113A was added
gene: RNF113A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RNF113A 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: RNF113A were set to PMID: 25612912; 31793730
Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to AMBER
Added comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.

2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene (can not access paper to see if from same family or functional evidence).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1307 SCAMP5 Chirag Patel gene: SCAMP5 was added
gene: SCAMP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to PMID: 31439720
Phenotypes for gene: SCAMP5 were set to no OMIM number yet
Review for gene: SCAMP5 was set to AMBER
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1305 SCAPER Chirag Patel gene: SCAPER was added
gene: SCAPER was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to PMID: 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa; OMIM #618195
Review for gene: SCAPER was set to GREEN
Added comment: 28 patients from 14 unrelated families with ID and retinitis pigmentosa (some with BBS phenotype), and homozygous or compound heterozygous mutations in SCAPER gene. No functional evidence of specific variants.

Analyses of SCAPER expression in human and mouse brain revealed an upregulation of SCAPER expression during cortical development and a higher expression of SCAPER in neurons compared to neural progenitors.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1303 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1301 SEMA5A Chirag Patel gene: SEMA5A was added
gene: SEMA5A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to PMID: 26395558
Phenotypes for gene: SEMA5A were set to no OMIM number yet
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1299 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCORL1 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: BCORL1 were set to 24123876; 30941876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon syndrome, MIM#301029
Review for gene: BCORL1 was set to GREEN
Added comment: Four unrelated families reported altogether; some mothers mildly affected.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1298 SMARCC2 Chirag Patel gene: SMARCC2 was added
gene: SMARCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to PMID: 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. They found heterozygous de novo SMARCC2 variants, but no functional evidence of specific variants. Transcriptomic analysis of fibroblasts from affected individuals highlighted a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1296 SMARCD1 Chirag Patel gene: SMARCD1 was added
gene: SMARCD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to PMID: 30879640
Phenotypes for gene: SMARCD1 were set to no OMIM number yet
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. No functional evidence of some variants was not conclusive with immunoblot or co-immunoprecipitation studies. Targeted knockdown of Drosophila ortholog Bap60 in the mushroom body of adult flies causes defects in long-term memory. Mushroom-body-specific transcriptome analysis revealed that Bap60 is required for context-dependent expression of genes involved in neuron function and development in juvenile flies when synaptic connections are actively being formed in response to experience. T
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1294 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1293 SNRPE Chirag Patel gene: SNRPE was added
gene: SNRPE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNRPE were set to Hypotrichosis 11; OMIM #615059
Review for gene: SNRPE was set to AMBER
Added comment: 1 patient with de novo heterozygous missense SNRPE mutation, with non-syndromic primary microcephaly and intellectual disability. SNRPE encodes SmE and they showed that the microcephaly-linked SmE variant is unable to interact with the SMN complex and as a consequence fails to assemble into U snRNPs. This results in widespread mRNA splicing alterations in fibroblast cells derived from this patient. Similar alterations were observed in HEK293 cells upon SmE depletion that could be rescued by the expression of wild type but not mutant SmE. Depletion of SmE in zebrafish causes aberrant mRNA splicing alterations and reduced brain size, reminiscent of the patient microcephaly phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1291 SOX4 Chirag Patel gene: SOX4 was added
gene: SOX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to PMID: 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1289 SVBP Chirag Patel gene: SVBP was added
gene: SVBP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to PMID: 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1287 TANC2 Chirag Patel gene: TANC2 was added
gene: TANC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to PMID: 31616000
Phenotypes for gene: TANC2 were set to no OMIM number yet
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1285 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1283 TARS Chirag Patel gene: TARS was added
gene: TARS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to PMID: 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1281 TEMN3-AS1 Chirag Patel gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to PubMed: 27103084; 30513139; 30513139
Phenotypes for gene: TEMN3-AS1 were set to ?Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to AMBER
Added comment: 3 unrelated families, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1279 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1277 VAMP2 Chirag Patel gene: VAMP2 was added
gene: VAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to PMID: 30929742
Phenotypes for gene: VAMP2 were set to no OMIM number yet
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1275 ZMIZ1 Chirag Patel gene: ZMIZ1 was added
gene: ZMIZ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to PubMed: 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.


14 unrelated patients with neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, and de novo heterozygous mutations in the ZMIZ1 gene. Transfection of 3 variants (T300M, c.3112dupA, and K91R) into HEK293T cells resulted in decreased induction of luciferase activity compared to wildtype (although the change for K91R was not statistically significant), suggesting impaired coactivation activity of the mutant proteins. Electroporation of these 3 mutants into progenitor cells in the ventricular zone of embryonic mice cortices resulted in defective neuronal migration to the cortex, as well as morphologic abnormalities of the neurons manifest as rounded cells with aberrantly oriented processes. These findings suggested that the ZMIZ1 mutations disrupted proper neuronal polarization and neuronal migration in the developing cortex. Functional studies of the other variants and additional studies of patient cells were not performed.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1273 ZNF292 Chirag Patel gene: ZNF292 was added
gene: ZNF292 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to PMID: 31723249
Phenotypes for gene: ZNF292 were set to no OMIM number yet
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1271 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark gene: ADGRB3 was added
gene: ADGRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ADGRB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRB3 were set to 30659260; 18628273
Phenotypes for gene: ADGRB3 were set to Intellectual disability
Review for gene: ADGRB3 was set to RED
Added comment: Single family with intragenic bi-allelic duplications and ID reported; association studies with schizophrenia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1268 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1266 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 31361404, 28513610; Phenotypes: Weiss-Kruszka syndrome, OMIM# 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1253 TTI1 Zornitza Stark gene: TTI1 was added
gene: TTI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI1 were set to 26539891; 30315573
Phenotypes for gene: TTI1 were set to intellectual disability; seizures; cerebellar atrophy
Review for gene: TTI1 was set to AMBER
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel reviewed gene: SLC25A4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30013777, 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM #617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, OMIM #615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, OMIM #609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Intellectual disability syndromic and non-syndromic v0.1251 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1249 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1248 SLC29A3 Chirag Patel Source Genetic Health Queensland was removed from SLC29A3.
Source Expert list was added to SLC29A3.
Mode of inheritance for gene SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome; OMIM #602782
Intellectual disability syndromic and non-syndromic v0.1247 SLC29A3 Chirag Patel reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, OMIM #602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1246 SLC2A10 Chirag Patel Source Genetic Health Queensland was removed from SLC2A10.
Source Expert list was added to SLC2A10.
Mode of inheritance for gene SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome; OMIM #208050
Intellectual disability syndromic and non-syndromic v0.1245 SLC2A10 Chirag Patel reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, OMIM #208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1244 SLC35A3 Chirag Patel Source Genetic Health Queensland was removed from SLC35A3.
Source Expert list was added to SLC35A3.
Mode of inheritance for gene SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were changed from to ?Arthrogryposis, mental retardation, and seizures; OMIM #615553
Publications for gene SLC35A3 were changed from PMID: 28328131; 24031089 to PMID: 28328131; 24031089
Intellectual disability syndromic and non-syndromic v0.1243 SLC35A3 Chirag Patel reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28328131, 24031089; Phenotypes: ?Arthrogryposis, mental retardation, and seizures, OMIM #615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1242 SLC39A4 Chirag Patel Source Genetic Health Queensland was removed from SLC39A4.
Source Expert list was added to SLC39A4.
Mode of inheritance for gene SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica; OMIM #201100
Intellectual disability syndromic and non-syndromic v0.1241 SLC39A4 Chirag Patel reviewed gene: SLC39A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, OMIM #201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1240 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1237 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1237 SLC5A2 Chirag Patel Source Genetic Health Queensland was removed from SLC5A2.
Source Expert list was added to SLC5A2.
Mode of inheritance for gene SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria; OMIM #233100
Intellectual disability syndromic and non-syndromic v0.1236 SLC5A2 Chirag Patel reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, OMIM #233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1235 SLC9A7 Chirag Patel Source Genetic Health Queensland was removed from SLC9A7.
Source Expert list was added to SLC9A7.
Mode of inheritance for gene SLC9A7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A7 were changed from to Intellectual developmental disorder, X-linked 108; OMIM #301024
Publications for gene SLC9A7 were changed from PubMed: 30335141 to PubMed: 30335141
Intellectual disability syndromic and non-syndromic v0.1234 SLC9A7 Chirag Patel reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM #301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1233 SMCHD1 Chirag Patel Source Genetic Health Queensland was removed from SMCHD1.
Source Expert list was added to SMCHD1.
Mode of inheritance for gene SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901
Intellectual disability syndromic and non-syndromic v0.1231 SMCHD1 Chirag Patel reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1231 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1229 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1227 SNAP25 Chirag Patel gene: SNAP25 was added
gene: SNAP25 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNAP25 were set to PMID: 25003006; 29100083; 28135719
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18; OMIM #616330
Review for gene: SNAP25 was set to GREEN
Added comment: ID neurodevelopmental disorder rather than muscle disorder, so OMIM entry needs to be edited.
> 5 patients reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1225 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1223 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1220 SNRPA Chirag Patel Source Genetic Health Queensland was removed from SNRPA.
Source Expert list was added to SNRPA.
Mode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNRPA were changed from to no OMIM # yet
Publications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235
Intellectual disability syndromic and non-syndromic v0.1219 SNRPA Chirag Patel reviewed gene: SNRPA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29437235; Phenotypes: no OMIM number yet; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1218 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1216 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM#213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1215 SNRPN Chirag Patel Source Genetic Health Queensland was removed from SNRPN.
Source Expert list was added to SNRPN.
Mode of inheritance for gene SNRPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome; OMIM #176270
Intellectual disability syndromic and non-syndromic v0.1214 SNRPN Chirag Patel reviewed gene: SNRPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, OMIM #176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.1213 SOST Chirag Patel Source Genetic Health Queensland was removed from SOST.
Source Expert list was added to SOST.
Mode of inheritance for gene SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were changed from to Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860; Sclerosteosis 1 , OMIM #269500; Van Buchem disease, OMIM #239100
Intellectual disability syndromic and non-syndromic v0.1212 SOST Chirag Patel reviewed gene: SOST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860, Sclerosteosis 1 , OMIM #269500, Van Buchem disease, OMIM #239100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1211 SP7 Chirag Patel reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, OMIM # 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1210 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1208 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 6, MIM#612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1208 SPART Chirag Patel Source Genetic Health Queensland was removed from SPART.
Source Expert list was added to SPART.
Mode of inheritance for gene SPART was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were changed from to Troyer syndrome; OMIM #275900
Publications for gene SPART were changed from PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386 to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476; Phenotypes: Troyer syndrome, OMIM # 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1206 SPEG Chirag Patel Source Genetic Health Queensland was removed from SPEG.
Source Expert list was added to SPEG.
Mode of inheritance for gene SPEG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were changed from to Centronuclear myopathy 5; OMIM #615959
Intellectual disability syndromic and non-syndromic v0.1205 SPEG Chirag Patel reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, OMIM #615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1204 SLC1A1 Zornitza Stark Mode of inheritance for gene: SLC1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1203 SLC1A1 Zornitza Stark reviewed gene: SLC1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dicarboxylic aminoaciduria, MIM#222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1202 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1200 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM#249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1199 SLC12A1 Zornitza Stark Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1197 SLC12A1 Zornitza Stark reviewed gene: SLC12A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM#601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1196 SH3TC2 Zornitza Stark Mode of inheritance for gene: SH3TC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1194 SH3TC2 Zornitza Stark reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1194 SPG7 Chirag Patel Source Genetic Health Queensland was removed from SPG7.
Source Expert list was added to SPG7.
Mode of inheritance for gene SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive; OMIM #607259
Intellectual disability syndromic and non-syndromic v0.1193 SPG7 Chirag Patel reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM #607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1192 SPINK5 Chirag Patel Source Genetic Health Queensland was removed from SPINK5.
Source Expert list was added to SPINK5.
Mode of inheritance for gene SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were changed from to Netherton syndrome; OMIM #256500
Intellectual disability syndromic and non-syndromic v0.1191 SPINK5 Chirag Patel reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome, OMIM #256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1190 SPTLC1 Chirag Patel Source Genetic Health Queensland was removed from SPTLC1.
Source Expert list was added to SPTLC1.
Mode of inheritance for gene SPTLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA; OMIM #162400
Intellectual disability syndromic and non-syndromic v0.1189 SPTLC1 Chirag Patel reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, OMIM #162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1189 ST3GAL5 Chirag Patel Source Genetic Health Queensland was removed from ST3GAL5.
Source Expert list was added to ST3GAL5.
Mode of inheritance for gene ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome; OMIM #609056
Publications for gene ST3GAL5 were changed from PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681 to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681
Intellectual disability syndromic and non-syndromic v0.1188 ST3GAL5 Chirag Patel reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15502825, 22990144, 24026681, 27232954, 30185102, 24026681; Phenotypes: Salt and pepper developmental regression syndrome, OMIM #609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1186 STAC3 Chirag Patel Source Genetic Health Queensland was removed from STAC3.
Source Expert list was added to STAC3.
Mode of inheritance for gene STAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAC3 were changed from to Myopathy, congenital, Baily-Bloch; OMIM #255995
Intellectual disability syndromic and non-syndromic v0.1185 STAC3 Chirag Patel reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, OMIM #255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1184 STAT5B Chirag Patel Source Genetic Health Queensland was removed from STAT5B.
Source Expert list was added to STAT5B.
Mode of inheritance for gene STAT5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency; OMIM #245590
Intellectual disability syndromic and non-syndromic v0.1183 STAT5B Chirag Patel edited their review of gene: STAT5B: Changed phenotypes: Growth hormone insensitivity with immunodeficiency, OMIM #245590; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1181 STT3A Chirag Patel Source Genetic Health Queensland was removed from STT3A.
Source Expert list was added to STT3A.
Mode of inheritance for gene STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3A were changed from to ?Congenital disorder of glycosylation, type Iw; OMIM #615596
Publications for gene STT3A were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1180 STT3A Chirag Patel reviewed gene: STT3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1179 STT3B Chirag Patel Source Genetic Health Queensland was removed from STT3B.
Source Expert list was added to STT3B.
Mode of inheritance for gene STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3B were changed from to ?Congenital disorder of glycosylation, type Ix; OMIM #615597
Publications for gene STT3B were changed from PMID: 23842455 to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1178 STT3B Chirag Patel reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Ix, OMIM #615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1178 SUCLA2 Chirag Patel Source Genetic Health Queensland was removed from SUCLA2.
Source Expert list was added to SUCLA2.
Mode of inheritance for gene SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073
Publications for gene SUCLA2 were changed from PMID: 27913098; 15877282; 23759946; 17287286; 17301081 to PMID: 27913098; 15877282; 23759946; 17287286; 17301081
Intellectual disability syndromic and non-syndromic v0.1177 SUCLA2 Chirag Patel reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27913098, 15877282, 23759946, 17287286, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM #612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1177 SUMF1 Chirag Patel Source Genetic Health Queensland was removed from SUMF1.
Source Expert list was added to SUMF1.
Mode of inheritance for gene SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency; OMIM #272200
Intellectual disability syndromic and non-syndromic v0.1176 SUMF1 Chirag Patel reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple sulfatase deficiency, OMIM #272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1175 SUZ12 Chirag Patel gene: SUZ12 was added
gene: SUZ12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUZ12 were set to PMID: 31736240; 30019515; 28229514
Phenotypes for gene: SUZ12 were set to no OMIM number yet.
Review for gene: SUZ12 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1173 SYT1 Chirag Patel gene: SYT1 was added
gene: SYT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYT1 were set to PubMed: 30107533
Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome; OMIM #618218
Review for gene: SYT1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1172 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099
Intellectual disability syndromic and non-syndromic v0.1170 SGCA Zornitza Stark reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1168 SFXN4 Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1167 SFXN4 Zornitza Stark reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1166 SF3B4 Zornitza Stark Mode of inheritance for gene: SF3B4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1164 SF3B4 Zornitza Stark reviewed gene: SF3B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM#154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1162 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1161 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 25044680; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM#613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1161 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1160 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1158 SELENON Zornitza Stark reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, rigid spine, 1, MIM# 602771, Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1158 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917
Phenotypes for gene: SELENOI were set to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly
Review for gene: SELENOI was set to RED
Added comment: Single family only, four sibs, supportive biochemical evidence. Borderline amber/red gene, only mild ID described, seems to be more of a progressive neurometabolic condition based on limited evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1156 TACO1 Chirag Patel Source Genetic Health Queensland was removed from TACO1.
Source Expert list was added to TACO1.
Mode of inheritance for gene TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110
Publications for gene TACO1 were changed from PubMed: 19503089; 20727754; 25044680 to PubMed: 19503089; 20727754; 25044680
Intellectual disability syndromic and non-syndromic v0.1155 TACO1 Chirag Patel reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 19503089, 20727754, 25044680; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1154 TAF8 Chirag Patel Source Genetic Health Queensland was removed from TAF8.
Source Expert list was added to TAF8.
Mode of inheritance for gene TAF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene TAF8 were changed from PMID: 29648665 to PMID: 29648665
Intellectual disability syndromic and non-syndromic v0.1153 TAF8 Chirag Patel reviewed gene: TAF8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29648665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel Source Genetic Health Queensland was removed from TBC1D20.
Source Expert list was added to TBC1D20.
Mode of inheritance for gene TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4; OMIM #615663
Publications for gene TBC1D20 were changed from PubMed: 24239381 to PubMed: 24239381
Intellectual disability syndromic and non-syndromic v0.1152 TBC1D20 Chirag Patel reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM #615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1151 TCTN3 Chirag Patel Source Genetic Health Queensland was removed from TCTN3.
Source Expert list was added to TCTN3.
Mode of inheritance for gene TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860
Publications for gene TCTN3 were changed from PubMed: 22883145; 25118024; 26092869 to PubMed: 22883145; 25118024; 26092869
Intellectual disability syndromic and non-syndromic v0.1150 TCTN3 Chirag Patel reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22883145, 25118024, 26092869; Phenotypes: Joubert syndrome 18, OMIM #614815, Orofaciodigital syndrome IV, OMIM #258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1147 TDGF1 Chirag Patel edited their review of gene: TDGF1: Added comment: No OMIM number listed.

1 patient with TDGF1 mutation with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.; Changed publications: PMID: 12073012; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1147 SCN9A Zornitza Stark reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863, HSAN2D, autosomal recessive, MIM#243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1146 SCN1B Zornitza Stark Mode of inheritance for gene: SCN1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1145 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1145 TDP2 Chirag Patel Source Genetic Health Queensland was removed from TDP2.
Source Expert list was added to TDP2.
Mode of inheritance for gene TDP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP2 were changed from to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Publications for gene TDP2 were changed from PMID: 31410782; 30109272; 24658003 to PMID: 31410782; 30109272; 24658003
Intellectual disability syndromic and non-syndromic v0.1144 TDP2 Chirag Patel reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31410782, 30109272, 24658003; Phenotypes: Spinocerebellar ataxia, autosomal recessive 23, OMIM #616949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1144 TERT Chirag Patel Source Genetic Health Queensland was removed from TERT.
Source Expert list was added to TERT.
Mode of inheritance for gene TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, autosomal dominant 2, OMIM #613989; Dyskeratosis congenita, autosomal recessive 4, OMIM #613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742
Intellectual disability syndromic and non-syndromic v0.1143 TERT Chirag Patel reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2, OMIM #613989, Dyskeratosis congenita, autosomal recessive 4, OMIM #613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1142 TFAP2A Chirag Patel Source Genetic Health Queensland was removed from TFAP2A.
Source Expert list was added to TFAP2A.
Mode of inheritance for gene TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome; OMIM #113620
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2A Chirag Patel reviewed gene: TFAP2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, OMIM #113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1140 TFAP2B Chirag Patel Source Genetic Health Queensland was removed from TFAP2B.
Source Expert list was added to TFAP2B.
Mode of inheritance for gene TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were changed from to Char syndrome, OMIM #169100; Patent ductus arteriosus 2, OMIM #617035
Intellectual disability syndromic and non-syndromic v0.1139 TFAP2B Chirag Patel reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, OMIM #169100, Patent ductus arteriosus 2, OMIM #617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1138 TFG Chirag Patel Source Genetic Health Queensland was removed from TFG.
Source Expert list was added to TFG.
Mode of inheritance for gene TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, OMIM #615658; Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484
Intellectual disability syndromic and non-syndromic v0.1137 TFG Chirag Patel reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, OMIM #615658, Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1136 TG Chirag Patel Source Genetic Health Queensland was removed from TG.
Source Expert list was added to TG.
Mode of inheritance for gene TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3; OMIM #274700
Intellectual disability syndromic and non-syndromic v0.1135 TG Chirag Patel reviewed gene: TG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, OMIM #274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1134 TGFBR1 Chirag Patel Source Genetic Health Queensland was removed from TGFBR1.
Source Expert list was added to TGFBR1.
Mode of inheritance for gene TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1; OMIM #609192
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR1 Chirag Patel reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, OMIM #609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1132 TGFBR2 Chirag Patel Source Genetic Health Queensland was removed from TGFBR2.
Source Expert list was added to TGFBR2.
Mode of inheritance for gene TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2; OMIM #610168
Intellectual disability syndromic and non-syndromic v0.1131 TGFBR2 Chirag Patel reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM #610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1130 THAP1 Chirag Patel Source Genetic Health Queensland was removed from THAP1.
Source Expert list was added to THAP1.
Mode of inheritance for gene THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion; OMIM #602629
Intellectual disability syndromic and non-syndromic v0.1129 THAP1 Chirag Patel reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 6, torsion, OMIM #602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1128 TIMM8A Chirag Patel Source Genetic Health Queensland was removed from TIMM8A.
Source Expert list was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome; OMIM #304700
Intellectual disability syndromic and non-syndromic v0.1127 TIMM8A Chirag Patel reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, OMIM #304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1127 TKT Chirag Patel Source Genetic Health Queensland was removed from TKT.
Source Expert list was added to TKT.
Mode of inheritance for gene TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Publications for gene TKT were changed from PubMed: 27259054 to PubMed: 27259054
Intellectual disability syndromic and non-syndromic v0.1126 TKT Chirag Patel reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1124 SCN11A Zornitza Stark Mode of inheritance for gene: SCN11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1122 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1120 SBF1 Zornitza Stark Mode of inheritance for gene: SBF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1119 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24799518, 23749797, 30039846, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1117 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1115 SBDS Zornitza Stark reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1113 SARS2 Zornitza Stark Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1112 SARS2 Zornitza Stark reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255763, 24034276; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1111 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1109 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1109 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Intellectual disability syndromic and non-syndromic v0.1106 RUBCN Zornitza Stark reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 20826435, 23728897; Phenotypes: Spinocerebellar ataxia, autosomal recessive 15, MIM#615705; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1104 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1103 RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1102 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1100 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1099 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1097 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 1, MIM#105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1096 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1094 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM#612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1093 RORA Zornitza Stark gene: RORA was added
gene: RORA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RORA were set to 29656859
Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060
Mode of pathogenicity for gene: RORA was set to Other
Review for gene: RORA was set to GREEN
Added comment: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1091 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1090 RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710, Roifman syndrome, MIM#616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1089 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1087 RMRP Zornitza Stark reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 1, MIM#607095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1086 RIN2 Zornitza Stark Mode of inheritance for gene: RIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1084 RIN2 Zornitza Stark reviewed gene: RIN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1083 RHOBTB2 Zornitza Stark gene: RHOBTB2 was added
gene: RHOBTB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOBTB2 were set to 29768694; 29276004
Phenotypes for gene: RHOBTB2 were set to Epileptic encephalopathy, early infantile, 64, MIM#618004
Review for gene: RHOBTB2 was set to GREEN
Added comment: 13 individuals from unrelated families reported in the literature in 2018 with de novo variants in this gene and ID/EE.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1081 RFX6 Zornitza Stark Mode of inheritance for gene: RFX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1079 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM#615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1078 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1076 RET Zornitza Stark reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880, Medullary thyroid carcinoma, MIM#155240, Multiple endocrine neoplasia IIA, MIM#171400, Multiple endocrine neoplasia IIB, MIM#162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1075 RECQL4 Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1073 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM#218600, RAPADILINO syndrome, MIM#266280, Rothmund-Thomson syndrome, type 2,MIM#268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1070 RBPJ Zornitza Stark reviewed gene: RBPJ: Rating: RED; Mode of pathogenicity: None; Publications: 22883147, 29924900; Phenotypes: Adams-Oliver syndrome 3, MIM#614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1069 RBM8A Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1067 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1066 TMEM231 Chirag Patel Source Genetic Health Queensland was removed from TMEM231.
Source Expert list was added to TMEM231.
Mode of inheritance for gene TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, OMIM #614970; Meckel syndrome 11, OMIM #615397
Publications for gene TMEM231 were changed from PMID: 23012439 to PMID: 23012439
Intellectual disability syndromic and non-syndromic v0.1065 TMEM231 Chirag Patel reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 23012439; Phenotypes: Joubert syndrome 20, OMIM #614970, Meckel syndrome 11, OMIM #615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1065 TP63 Chirag Patel Source Genetic Health Queensland was removed from TP63.
Source Expert list was added to TP63.
Mode of inheritance for gene TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Intellectual disability syndromic and non-syndromic v0.1063 TP63 Chirag Patel reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1063 TPP1 Chirag Patel Source Genetic Health Queensland was removed from TPP1.
Source Expert list was added to TPP1.
Mode of inheritance for gene TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500; Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270
Intellectual disability syndromic and non-syndromic v0.1062 TPP1 Chirag Patel reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, OMIM #204500, Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1061 TRAF7 Chirag Patel reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, OMIM #618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1061 TRAF7 Chirag Patel gene: TRAF7 was added
gene: TRAF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to PMID: 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay; OMIM #618164
Intellectual disability syndromic and non-syndromic v0.1060 TRAPPC11 Chirag Patel Source Genetic Health Queensland was removed from TRAPPC11.
Source Expert list was added to TRAPPC11.
Mode of inheritance for gene TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18; OMIM #615356
Publications for gene TRAPPC11 were changed from PMID: 23830518; 27707803 to PMID: 23830518; 27707803
Intellectual disability syndromic and non-syndromic v0.1059 TRAPPC11 Chirag Patel reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23830518, 27707803; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM #615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1056 RBM28 Zornitza Stark Mode of inheritance for gene: RBM28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1054 RBM28 Zornitza Stark reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: None; Publications: 18439547; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1053 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1051 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1050 RANBP2 Zornitza Stark Mode of inheritance for gene: RANBP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1048 RANBP2 Zornitza Stark reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1048 RAC3 Zornitza Stark Phenotypes for gene: RAC3 were changed from to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Intellectual disability syndromic and non-syndromic v0.1046 RAC3 Zornitza Stark Mode of inheritance for gene: RAC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1045 RAC3 Zornitza Stark reviewed gene: RAC3: Rating: ; Mode of pathogenicity: None; Publications: 30293988, 29276006; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1043 RAB40AL Zornitza Stark Mode of inheritance for gene: RAB40AL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1041 RAB40AL Zornitza Stark reviewed gene: RAB40AL: Rating: RED; Mode of pathogenicity: None; Publications: 25044830; Phenotypes: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1040 RAB27A Zornitza Stark Mode of inheritance for gene: RAB27A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1038 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2, MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1037 PYGL Zornitza Stark Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1035 PYGL Zornitza Stark reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM#232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1033 PUM1 Zornitza Stark Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1031 PUM1 Zornitza Stark reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29474920, 25768905; Phenotypes: Spinocerebellar ataxia 47, MIM#617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1030 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1029 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1028 PRX Zornitza Stark Mode of inheritance for gene: PRX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1026 PRX Zornitza Stark reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM#614895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1024 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to intellectual disability; iris abnormalities
Intellectual disability syndromic and non-syndromic v0.1022 PRR12 Zornitza Stark gene: PRR12 was added
gene: PRR12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724
Review for gene: PRR12 was set to GREEN
Added comment: Three unrelated individuals reported with de novo LoF variants; in addition, another individual with translocation disrupting gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1020 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1018 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM#612067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1017 PRKN Zornitza Stark Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1015 PRKN Zornitza Stark reviewed gene: PRKN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1015 PRKDC Zornitza Stark Phenotypes for gene: PRKDC were changed from to Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966
Intellectual disability syndromic and non-syndromic v0.1013 PRKDC Zornitza Stark Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1011 PRKDC Zornitza Stark reviewed gene: PRKDC: Rating: RED; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1010 PRKAR1A Zornitza Stark Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1009 PRKAR1A Zornitza Stark reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM#101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1006 PRF1 Zornitza Stark Mode of inheritance for gene: PRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1004 PRF1 Zornitza Stark reviewed gene: PRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1002 PREPL Zornitza Stark Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1000 PREPL Zornitza Stark reviewed gene: PREPL: Rating: RED; Mode of pathogenicity: None; Publications: 28726805; Phenotypes: Myasthenic syndrome, congenital, 22, MIM#616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.998 PRDM8 Zornitza Stark Mode of inheritance for gene: PRDM8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.996 PRDM8 Zornitza Stark reviewed gene: PRDM8: Rating: RED; Mode of pathogenicity: None; Publications: 22961547; Phenotypes: Epilepsy, progressive myoclonic, 10, MIM#616640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.995 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported with bi-allelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.993 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.991 PPOX Zornitza Stark reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria variegata, MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.989 PPM1K Zornitza Stark Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.987 PPM1K Zornitza Stark reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.986 POP1 Zornitza Stark Mode of inheritance for gene: POP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.984 POP1 Zornitza Stark reviewed gene: POP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249
Intellectual disability syndromic and non-syndromic v0.982 POMK Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.981 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.980 POC1A Zornitza Stark Mode of inheritance for gene: POC1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.978 POC1A Zornitza Stark reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.977 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.976 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.975 PNP Zornitza Stark Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.974 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.971 PLOD3 Zornitza Stark Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.969 PLOD3 Zornitza Stark reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834968, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.967 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.965 PINK1 Zornitza Stark reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.964 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.963 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.961 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.959 PHKG2 Zornitza Stark Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.957 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IXc, MIM#613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.956 PHKA2 Zornitza Stark Mode of inheritance for gene: PHKA2 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 v0.954 PHKA2 Zornitza Stark reviewed gene: PHKA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease, type IXa1, MIM#306000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.953 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 29209020; 27900362; 23033978
Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991
Review for gene: PHIP was set to GREEN
Added comment: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Intellectual disability syndromic and non-syndromic v0.950 PHC1 Zornitza Stark Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.948 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.946 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.942 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.940 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.938 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.937 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24166846, 30423442; Phenotypes: Joubert syndrome 22, MIM#615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.936 PDE11A Zornitza Stark Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.934 PDE11A Zornitza Stark reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.933 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.931 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations
Review for gene: TMX2 was set to GREEN
Added comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Added comment: Comment when marking as ready: Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.928 PDE10A Zornitza Stark Mode of inheritance for gene: PDE10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.927 PDE10A Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.926 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert Review
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Global developmental delay with regression; spastic para- or tetra paresis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Five unrelated individuals. Variants are hypomorphic.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.922 PCLO Zornitza Stark Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from to Deafness, autosomal recessive 23, MIM#609533
Intellectual disability syndromic and non-syndromic v0.918 PCDH15 Zornitza Stark Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.916 PCDH15 Zornitza Stark reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 23, MIM#609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.914 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.913 PCDH12 Zornitza Stark reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.912 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.910 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.909 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.907 PAX3 Zornitza Stark reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, MIM#122880, Waardenburg syndrome, type 1, MIM#193500, Waardenburg syndrome, type 3, MIM#148820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.906 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.904 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM#120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.903 PANK2 Zornitza Stark Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.901 PANK2 Zornitza Stark reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.899 PAM16 Zornitza Stark Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PAM16 Zornitza Stark reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.896 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.895 PACS2 Zornitza Stark reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858; Phenotypes: Epileptic encephalopathy, early infantile, 66, MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.891 NUP62 Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.889 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Striatonigral degeneration, infantile, MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.887 NRXN2 Zornitza Stark Mode of inheritance for gene: NRXN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.885 NRXN2 Zornitza Stark reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: 21424692, 30709877, 25745399; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.883 NR4A2 Zornitza Stark Mode of inheritance for gene: NR4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.881 NR4A2 Zornitza Stark reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31428396, 30504930, 29770430; Phenotypes: Intellectual disability, rolandic epilepsy, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.879 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.876 NOTCH3 Zornitza Stark Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.874 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Intellectual disability syndromic and non-syndromic v0.872 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.869 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.867 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.866 NFIB Zornitza Stark gene: NFIB was added
gene: NFIB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Review for gene: NFIB was set to GREEN
Added comment: 18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.863 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.862 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.860 NECAP1 Zornitza Stark Mode of inheritance for gene: NECAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.858 NECAP1 Zornitza Stark reviewed gene: NECAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24399846, 30626896, 30525121; Phenotypes: Epileptic encephalopathy, early infantile, 21, MIM#615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.856 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.855 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12754703, 26008862, 29554876; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.853 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.852 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 22474353; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.850 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.849 NDUFS3 Zornitza Stark reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14729820, 22499348, 30140060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.847 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.846 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11220739, 31411514, 29272804; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.841 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.840 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.838 NDUFAF6 Zornitza Stark Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF6 Zornitza Stark reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 18614015; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.835 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179882, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.832 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.829 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.826 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513682, 28857146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.823 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.821 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.819 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.818 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.816 NAGS Zornitza Stark Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.814 NAGS Zornitza Stark reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency, MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.812 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.809 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.805 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark gene: AGO3 was added
gene: AGO3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: AGO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO3 were set to 25271087
Phenotypes for gene: AGO3 were set to Intellectual disability
Review for gene: AGO3 was set to RED
Added comment: Five children with heterozygous deletions of AGO3 reported; however deletions also encompass AGO1 and therefore gene-disease association cannot be firmly established until SNVs reported/functional data becomes available.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark gene: ADRA2B was added
gene: ADRA2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ADRA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 24114805; 21937992
Phenotypes for gene: ADRA2B were set to Cortical myoclonus and epilepsy; Intellectual disability
Review for gene: ADRA2B was set to RED
Added comment: Two families reported but same mutation, ?founder effect. Most affected individuals had normal intellect.
Another paper linking to AR intellectual disability but as part of manuscript reporting multiple novel candidates.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.796 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.793 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.790 CFH Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.786 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.782 CEP63 Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.779 CDT1 Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080
Intellectual disability syndromic and non-syndromic v0.775 CDK6 Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.771 CDK16 Zornitza Stark Mode of inheritance for gene: CDK16 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.767 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.763 CCDC8 Zornitza Stark Mode of inheritance for gene: CCDC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.759 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.755 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.752 CA8 Zornitza Stark Mode of inheritance for gene: CA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Intellectual disability syndromic and non-syndromic v0.750 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.747 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.744 BSND Zornitza Stark Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.741 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.739 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290
Intellectual disability syndromic and non-syndromic v0.737 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.734 BDNF Zornitza Stark Mode of inheritance for gene: BDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.730 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.726 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.723 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.720 B4GALT1 Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.718 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.715 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.712 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.709 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.706 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.703 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.699 ALG14 Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.697 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.695 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.692 ADD3 Zornitza Stark Mode of inheritance for gene: ADD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286
Intellectual disability syndromic and non-syndromic v0.689 ADAT3 Zornitza Stark Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.687 ADAMTS10 Zornitza Stark Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.684 ACTL6A Zornitza Stark Mode of inheritance for gene: ACTL6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.682 AVPR2 Zornitza Stark Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.678 AVP Zornitza Stark Mode of inheritance for gene: AVP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.675 ATXN10 Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.671 ATP8A2 Zornitza Stark Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.666 ATP2A2 Zornitza Stark Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.663 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.660 ATP10A Zornitza Stark Mode of inheritance for gene: ATP10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.656 ARNT2 Zornitza Stark Mode of inheritance for gene: ARNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.653 ARHGAP31 Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.650 APTX Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.647 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.644 ALS2 Zornitza Stark Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.641 ALDOA Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.638 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.634 AKAP6 Zornitza Stark Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.630 AGT Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.627 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.624 AGK Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive, MIM#614487
Intellectual disability syndromic and non-syndromic v0.620 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.616 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.613 ADAMTSL2 Zornitza Stark Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.610 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.606 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275
Review for gene: LZTR1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.604 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.603 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.602 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011; Phenotypes: Bardet-Biedl syndrome 17, MIM#615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.601 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.600 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.599 LYRM7 Zornitza Stark Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LYRM7 Zornitza Stark reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from to Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Intellectual disability syndromic and non-syndromic v0.597 LMNB1 Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.595 LMNB1 Zornitza Stark reviewed gene: LMNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.592 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.591 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 24256811, 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.589 LINGO1 Zornitza Stark gene: LINGO1 was added
gene: LINGO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64, MIM#618103
Review for gene: LINGO1 was set to GREEN
Added comment: Five individuals from two unrelated families, no functional evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.586 LIAS Zornitza Stark Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LIAS Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.584 LGI4 Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.582 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140; 3 Pelger-Huet anomaly, MIM#169400
Intellectual disability syndromic and non-syndromic v0.581 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.579 LBR Zornitza Stark reviewed gene: LBR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Greenberg skeletal dysplasia, MIM#215140, 3 Pelger-Huet anomaly, MIM#169400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.575 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT5B were set to 25363768; 28191889; 29276005
Phenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, MIM#617788
Review for gene: KMT5B was set to GREEN
Added comment: Multiple affected individuals from unrelated families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.573 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.572 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset, MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.566 KLF7 Zornitza Stark Mode of inheritance for gene: KLF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.565 KLF7 Zornitza Stark reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29251763; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.563 KIRREL3 Zornitza Stark Mode of inheritance for gene: KIRREL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.561 KIRREL3 Zornitza Stark reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.560 KIF21A Zornitza Stark Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.558 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.556 KIF16B Zornitza Stark Mode of inheritance for gene: KIF16B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.554 KIF16B Zornitza Stark reviewed gene: KIF16B: Rating: RED; Mode of pathogenicity: None; Publications: 29736960; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.553 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124279
Phenotypes for gene: KDM6B were set to Intellectual disability
Review for gene: KDM6B was set to GREEN
Added comment: 12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.550 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.548 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446
Intellectual disability syndromic and non-syndromic v0.546 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.545 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.544 KCNJ1 Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.542 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.541 KCND3 Zornitza Stark Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.539 KCND3 Zornitza Stark reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.538 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.536 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.535 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly
Review for gene: KARS was set to GREEN
gene: KARS was marked as current diagnostic
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.531 TRHR Chirag Patel Source Genetic Health Queensland was removed from TRHR.
Source Expert list was added to TRHR.
Mode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573
Intellectual disability syndromic and non-syndromic v0.530 TRHR Chirag Patel reviewed gene: TRHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, OMIM #618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.529 TRIM37 Chirag Patel Source Genetic Health Queensland was removed from TRIM37.
Source Expert list was added to TRIM37.
Mode of inheritance for gene TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism; OMIM #253250
Intellectual disability syndromic and non-syndromic v0.528 TRIM37 Chirag Patel reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel gene: TRRAP was added
gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to PubMed: 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454
Review for gene: TRRAP was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Source Genetic Health Queensland was removed from TRMT1.
Source Expert list was added to TRMT1.
Mode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302
Publications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914
Intellectual disability syndromic and non-syndromic v0.523 TRMT1 Chirag Patel reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30289604, 26308914; Phenotypes: Mental retardation, autosomal recessive 68, OMIM #618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.522 TRNT1 Chirag Patel Source Genetic Health Queensland was removed from TRNT1.
Source Expert list was added to TRNT1.
Mode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084
Publications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523
Intellectual disability syndromic and non-syndromic v0.521 TRNT1 Chirag Patel reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.520 TTC21B Chirag Patel Source Genetic Health Queensland was removed from TTC21B.
Source Expert list was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819
Intellectual disability syndromic and non-syndromic v0.519 TTC21B Chirag Patel reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, OMIM #613820, Short-rib thoracic dysplasia 4 with or without polydactyly, OMIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.518 TTR Chirag Patel Source Genetic Health Queensland was removed from TTR.
Source Expert list was added to TTR.
Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM #105210; Carpal tunnel syndrome, familial; OMIM #115430
Intellectual disability syndromic and non-syndromic v0.517 TTR Chirag Patel reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM #105210, Carpal tunnel syndrome, familial, OMIM #115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.516 TUFM Chirag Patel Source Genetic Health Queensland was removed from TUFM.
Source Expert list was added to TUFM.
Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678
Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.514 TWNK Chirag Patel Source Genetic Health Queensland was removed from TWNK.
Source Expert list was added to TWNK.
Mode of inheritance for gene TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245; Perrault syndrome 5, OMIM #616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286
Intellectual disability syndromic and non-syndromic v0.513 TWNK Chirag Patel reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245, Perrault syndrome 5, OMIM #616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.511 KANK1 Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.509 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 16301218, 30684669; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800
Intellectual disability syndromic and non-syndromic v0.507 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.504 ABCG5 Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.501 JAG1 Zornitza Stark Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.499 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 1, MIM#118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.498 IYD Zornitza Stark Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.496 IYD Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM#274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.494 ITCH Zornitza Stark Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.492 ITCH Zornitza Stark reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.491 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.489 INS Zornitza Stark Mode of inheritance for gene: INS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.487 INS Zornitza Stark reviewed gene: INS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal, MIM#606176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Phenotypes for gene: IMPA1 were changed from to Mental retardation, autosomal recessive 59, MIM#617323
Intellectual disability syndromic and non-syndromic v0.485 IMPA1 Zornitza Stark Mode of inheritance for gene: IMPA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.483 IMPA1 Zornitza Stark reviewed gene: IMPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26416544, 30616629; Phenotypes: Mental retardation, autosomal recessive 59, MIM#617323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.481 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.479 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
Intellectual disability syndromic and non-syndromic v0.474 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.473 IFT27 Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.461 MYO7A Chirag Patel Source Genetic Health Queensland was removed from MYO7A.
Source Expert list was added to MYO7A.
Mode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900
Intellectual disability syndromic and non-syndromic v0.460 MYO7A Chirag Patel reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 11, OMIM #601317, Deafness, autosomal recessive 2, OMIM #600060, Usher syndrome, type 1B, OMIM #276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.459 MYMK Chirag Patel Source Genetic Health Queensland was removed from MYMK.
Source Expert list was added to MYMK.
Mode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940
Intellectual disability syndromic and non-syndromic v0.458 MYMK Chirag Patel reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.457 MYH3 Chirag Patel Source Genetic Health Queensland was removed from MYH3.
Source Expert list was added to MYH3.
Mode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469
Intellectual disability syndromic and non-syndromic v0.456 MYH3 Chirag Patel reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.455 MTPAP Chirag Patel Source Genetic Health Queensland was removed from MTPAP.
Source Expert list was added to MTPAP.
Mode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672
Intellectual disability syndromic and non-syndromic v0.454 MTPAP Chirag Patel reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Source Genetic Health Queensland was removed from MTO1.
Source Expert list was added to MTO1.
Mode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702
Publications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671
Intellectual disability syndromic and non-syndromic v0.453 MTO1 Chirag Patel reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26061759, 29331171; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.452 MTMR2 Chirag Patel Source Genetic Health Queensland was removed from MTMR2.
Source Expert list was added to MTMR2.
Mode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382
Intellectual disability syndromic and non-syndromic v0.451 MTMR2 Chirag Patel reviewed gene: MTMR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, OMIM #601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.449 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.449 MSH6 Chirag Patel Source Genetic Health Queensland was removed from MSH6.
Source Expert list was added to MSH6.
Mode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300
Intellectual disability syndromic and non-syndromic v0.447 MSH6 Chirag Patel reviewed gene: MSH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350, Mismatch repair cancer syndrome, OMIM #276300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.446 MTM1 Chirag Patel Source Genetic Health Queensland was removed from MTM1.
Source Expert list was added to MTM1.
Mode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400
Intellectual disability syndromic and non-syndromic v0.445 MTM1 Chirag Patel reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotubular myopathy, X-linked, OMIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.444 MRPS16 Chirag Patel Source Genetic Health Queensland was removed from MRPS16.
Source Expert list was added to MRPS16.
Mode of inheritance for gene MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Publications for gene MRPS16 were changed from PubMed: 15505824 to PubMed: 15505824
Intellectual disability syndromic and non-syndromic v0.443 MRPS16 Chirag Patel reviewed gene: MRPS16: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, OMIM #610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.442 MRPL3 Chirag Patel Source Genetic Health Queensland was removed from MRPL3.
Source Expert list was added to MRPL3.
Mode of inheritance for gene MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Publications for gene MRPL3 were changed from PubMed: 27815843; 21786366 to PubMed: 27815843; 21786366
Intellectual disability syndromic and non-syndromic v0.441 MRPL3 Chirag Patel reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.440 MRAP Chirag Patel Source Genetic Health Queensland was removed from MRAP.
Source Expert list was added to MRAP.
Mode of inheritance for gene MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2; OMIM #607398
Intellectual disability syndromic and non-syndromic v0.439 MRAP Chirag Patel reviewed gene: MRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, OMIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.439 MPV17 Chirag Patel Source Genetic Health Queensland was removed from MPV17.
Source Expert list was added to MPV17.
Mode of inheritance for gene MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Publications for gene MPV17 were changed from PMID: 22593919 to PMID: 22593919
Intellectual disability syndromic and non-syndromic v0.438 MPV17 Chirag Patel reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22593919; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.437 IBA57 Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.436 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.435 MPZ Chirag Patel Source Genetic Health Queensland was removed from MPZ.
Source Expert list was added to MPZ.
Mode of inheritance for gene MPZ was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MPZ were changed from to Various CMT types
Intellectual disability syndromic and non-syndromic v0.434 MPZ Chirag Patel reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various CMT types; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.433 MPDZ Chirag Patel Source Genetic Health Queensland was removed from MPDZ.
Source Expert list was added to MPDZ.
Mode of inheritance for gene MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219
Intellectual disability syndromic and non-syndromic v0.432 MPDZ Chirag Patel reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28556411, 23240096; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM #615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.431 MNX1 Chirag Patel Source Genetic Health Queensland was removed from MNX1.
Source Expert list was added to MNX1.
Mode of inheritance for gene MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MNX1 were changed from to Currarino syndrome; OMIM #176450
Intellectual disability syndromic and non-syndromic v0.430 MNX1 Chirag Patel reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, OMIM #176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.429 MLH1 Chirag Patel Source Genetic Health Queensland was removed from MLH1.
Source Expert list was added to MLH1.
Mode of inheritance for gene MLH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were changed from to Mismatch repair cancer syndrome, OMIM #276300; Muir-Torre syndrome, OMIM #158320
Intellectual disability syndromic and non-syndromic v0.428 MLH1 Chirag Patel reviewed gene: MLH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome, OMIM #276300, Muir-Torre syndrome, OMIM #158320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.428 MIR17HG Chirag Patel Source Genetic Health Queensland was removed from MIR17HG.
Source Expert list was added to MIR17HG.
Mode of inheritance for gene MIR17HG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2; OMIM #614326
Publications for gene MIR17HG were changed from PMID: 25391829; 21892160 to PMID: 25391829; 21892160
Intellectual disability syndromic and non-syndromic v0.427 MIR17HG Chirag Patel reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25391829, 21892160; Phenotypes: Feingold syndrome 2, OMIM #614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.426 MID2 Chirag Patel Source Genetic Health Queensland was removed from MID2.
Source Expert list was added to MID2.
Mode of inheritance for gene MID2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID2 were changed from to ?Mental retardation, X-linked 101; OMIM#300928
Publications for gene MID2 were changed from PubMed: 24115387 to PubMed: 24115387
Intellectual disability syndromic and non-syndromic v0.425 MID2 Chirag Patel reviewed gene: MID2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24115387; Phenotypes: ?Mental retardation, X-linked 101, OMIM#300928; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.424 MGP Chirag Patel Source Genetic Health Queensland was removed from MGP.
Source Expert list was added to MGP.
Mode of inheritance for gene MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were changed from to Keutel syndrome; OMIM #245150
Intellectual disability syndromic and non-syndromic v0.423 MGP Chirag Patel reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, OMIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.422 MGME1 Chirag Patel Source Genetic Health Queensland was removed from MGME1.
Source Expert list was added to MGME1.
Mode of inheritance for gene MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11; OMIM#615084
Publications for gene MGME1 were changed from PubMed: 23313956 to PubMed: 23313956
Intellectual disability syndromic and non-syndromic v0.421 MGME1 Chirag Patel reviewed gene: MGME1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, OMIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.420 MFN2 Chirag Patel Source Genetic Health Queensland was removed from MFN2.
Source Expert list was added to MFN2.
Mode of inheritance for gene MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Intellectual disability syndromic and non-syndromic v0.419 MFN2 Chirag Patel reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.419 METTL23 Chirag Patel Source Genetic Health Queensland was removed from METTL23.
Source Expert list was added to METTL23.
Mode of inheritance for gene METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were changed from to Mental retardation, autosomal recessive 44; OMIM#615942
Publications for gene METTL23 were changed from PubMed: 24501276; 24626631 to PubMed: 24501276; 24626631
Intellectual disability syndromic and non-syndromic v0.418 METTL23 Chirag Patel reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24501276, 24626631; Phenotypes: Mental retardation, autosomal recessive 44, OMIM#615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.417 MET Chirag Patel Source Genetic Health Queensland was removed from MET.
Source Expert list was added to MET.
Mode of inheritance for gene MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278
Intellectual disability syndromic and non-syndromic v0.416 MET Chirag Patel reviewed gene: MET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal recessive 97, OMIM #616705, {Osteofibrous dysplasia, susceptibility to}, OMIM #607278; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.416 MEGF8 Chirag Patel Source Genetic Health Queensland was removed from MEGF8.
Source Expert list was added to MEGF8.
Mode of inheritance for gene MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome 2; OMIM #614976
Intellectual disability syndromic and non-syndromic v0.415 MEGF8 Chirag Patel reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3993675; Phenotypes: Carpenter syndrome 2, OMIM #614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.414 MCM4 Chirag Patel Source Genetic Health Queensland was removed from MCM4.
Source Expert list was added to MCM4.
Mode of inheritance for gene MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were changed from to Immunodeficiency 54; OMIM #609981
Intellectual disability syndromic and non-syndromic v0.413 MCM4 Chirag Patel reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 54, OMIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.412 MARS2 Chirag Patel Source Genetic Health Queensland was removed from MARS2.
Source Expert list was added to MARS2.
Mode of inheritance for gene MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were changed from to ?Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Publications for gene MARS2 were changed from PMID: 25754315 to PMID: 25754315
Intellectual disability syndromic and non-syndromic v0.411 MARS2 Chirag Patel reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 25754315; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.410 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.408 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM#236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.407 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.406 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.405 MAGT1 Chirag Patel Source Genetic Health Queensland was removed from MAGT1.
Source Expert list was added to MAGT1.
Mode of inheritance for gene MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853
Publications for gene MAGT1 were changed from PMID: 31036665 to PMID: 31036665
Intellectual disability syndromic and non-syndromic v0.404 MAGT1 Chirag Patel reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 31036665; Phenotypes: Congenital disorder of glycosylation, type Icc, OMIM #301031, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.403 HOXD10 Zornitza Stark Mode of inheritance for gene: HOXD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.401 HOXD10 Zornitza Stark reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertical talus, congenital, MIM#192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.400 ORC4 Chirag Patel Source Genetic Health Queensland was removed from ORC4.
Source Expert list was added to ORC4.
Mode of inheritance for gene ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2; OMIM #613800
Intellectual disability syndromic and non-syndromic v0.399 ORC4 Chirag Patel reviewed gene: ORC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, OMIM #613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.398 ORC6 Chirag Patel Source Genetic Health Queensland was removed from ORC6.
Source Expert list was added to ORC6.
Mode of inheritance for gene ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3; OMIM #613803
Intellectual disability syndromic and non-syndromic v0.397 ORC6 Chirag Patel reviewed gene: ORC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, OMIM #613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.397 HNMT Zornitza Stark Phenotypes for gene: HNMT were changed from to Mental retardation, autosomal recessive 51, MIM#616739
Intellectual disability syndromic and non-syndromic v0.395 HNMT Zornitza Stark Mode of inheritance for gene: HNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.394 HNMT Zornitza Stark reviewed gene: HNMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26206890, 30744146; Phenotypes: Mental retardation, autosomal recessive 51, MIM#616739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.392 HAL Zornitza Stark Mode of inheritance for gene: HAL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.390 HAL Zornitza Stark reviewed gene: HAL: Rating: RED; Mode of pathogenicity: None; Publications: 4421298, 7119955; Phenotypes: [Histidinemia], MIM#235800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.389 UCHL1 Chirag Patel Source Genetic Health Queensland was removed from UCHL1.
Source Expert list was added to UCHL1.
Mode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491
Intellectual disability syndromic and non-syndromic v0.388 UCHL1 Chirag Patel reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM #615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.387 UFM1 Chirag Patel gene: UFM1 was added
gene: UFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to PubMed: 27545674; 27545681; 28931644
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14; OMIM #617899
Review for gene: UFM1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.385 UGT1A1 Chirag Patel Source Genetic Health Queensland was removed from UGT1A1.
Source Expert list was added to UGT1A1.
Mode of inheritance for gene UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I, OMIM #218800; Crigler-Najjar syndrome, type II, OMIM #606785
Intellectual disability syndromic and non-syndromic v0.384 UGT1A1 Chirag Patel reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.383 UNC13D Chirag Patel Source Genetic Health Queensland was removed from UNC13D.
Source Expert list was added to UNC13D.
Mode of inheritance for gene UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were changed from to Hemophagocytic lymphohistiocytosis, familial, 3; OMIM #608898
Intellectual disability syndromic and non-syndromic v0.382 UNC13D Chirag Patel reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, OMIM #608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.382 UQCC2 Chirag Patel Source Genetic Health Queensland was removed from UQCC2.
Source Expert list was added to UQCC2.
Mode of inheritance for gene UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7; OMIM #615824
Publications for gene UQCC2 were changed from PubMed: 28804536; 24385928 to PubMed: 28804536; 24385928
Intellectual disability syndromic and non-syndromic v0.380 UQCC2 Chirag Patel reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM #615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.379 UQCRB Chirag Patel Source Genetic Health Queensland was removed from UQCRB.
Source Expert list was added to UQCRB.
Mode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158
Publications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960
Intellectual disability syndromic and non-syndromic v0.378 UQCRB Chirag Patel reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 12709789, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, OMIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.378 UQCRC2 Chirag Patel Source Genetic Health Queensland was removed from UQCRC2.
Source Expert list was added to UQCRC2.
Mode of inheritance for gene UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5; OMIM #615160
Intellectual disability syndromic and non-syndromic v0.376 UQCRC2 Chirag Patel reviewed gene: UQCRC2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM #615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.375 UQCRQ Chirag Patel Source Genetic Health Queensland was removed from UQCRQ.
Source Expert list was added to UQCRQ.
Mode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159
Publications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546
Intellectual disability syndromic and non-syndromic v0.374 UQCRQ Chirag Patel reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.373 VAMP1 Chirag Patel reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, OMIM #108600, Myasthenic syndrome, congenital, 25, OMIM #618323; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.373 VAMP1 Chirag Patel Source Genetic Health Queensland was removed from VAMP1.
Source Expert list was added to VAMP1.
Mode of inheritance for gene VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, OMIM #108600; Myasthenic syndrome, congenital, 25, OMIM #618323
Intellectual disability syndromic and non-syndromic v0.371 VANGL1 Chirag Patel reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Caudal regression syndrome, OMIM #600145, {Neural tube defects, susceptibility to}, OMIM #182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.371 VANGL1 Chirag Patel Source Genetic Health Queensland was removed from VANGL1.
Source Expert list was added to VANGL1.
Mode of inheritance for gene VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, OMIM #600145; {Neural tube defects, susceptibility to}, OMIM #182940
Intellectual disability syndromic and non-syndromic v0.370 VARS2 Chirag Patel Source Genetic Health Queensland was removed from VARS2.
Source Expert list was added to VARS2.
Mode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Publications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24827421, 25058219,; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.369 VIPAS39 Chirag Patel Source Genetic Health Queensland was removed from VIPAS39.
Source Expert list was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2; OMIM #613404
Publications for gene VIPAS39 were changed from PMID: 20190753 to PMID: 20190753
Intellectual disability syndromic and non-syndromic v0.368 VIPAS39 Chirag Patel reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.368 VPS33B Chirag Patel Source Genetic Health Queensland was removed from VPS33B.
Source Expert list was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085
Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130
Intellectual disability syndromic and non-syndromic v0.367 VPS33B Chirag Patel reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.366 VPS37A Chirag Patel Source Genetic Health Queensland was removed from VPS37A.
Source Expert list was added to VPS37A.
Mode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898
Publications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650
Intellectual disability syndromic and non-syndromic v0.365 VPS37A Chirag Patel reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, OMIM #614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.364 VPS45 Chirag Patel Source Genetic Health Queensland was removed from VPS45.
Source Expert list was added to VPS45.
Mode of inheritance for gene VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were changed from to Neutropenia, severe congenital, 5, autosomal recessive; OMIM #615285
Intellectual disability syndromic and non-syndromic v0.363 VPS45 Chirag Patel reviewed gene: VPS45: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, OMIM #615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.362 WASF1 Chirag Patel gene: WASF1 was added
gene: WASF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WASF1 were set to PMID: 29961568
Review for gene: WASF1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.360 WASHC4 Chirag Patel Source Genetic Health Queensland was removed from WASHC4.
Source Expert list was added to WASHC4.
Mode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817
Publications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477
Intellectual disability syndromic and non-syndromic v0.359 WASHC4 Chirag Patel reviewed gene: WASHC4: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21498477; Phenotypes: ?Mental retardation, autosomal recessive 43, OMIM #615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.358 WASHC5 Chirag Patel Source Genetic Health Queensland was removed from WASHC5.
Source Expert list was added to WASHC5.
Mode of inheritance for gene WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were changed from to Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210
Publications for gene WASHC5 were changed from PubMed: 24065355 to PubMed: 24065355
Intellectual disability syndromic and non-syndromic v0.357 WASHC5 Chirag Patel reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24065355; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM #603563, Ritscher-Schinzel syndrome 1, OMIM #220210; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.356 WDR11 Chirag Patel reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM #614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.354 WDR19 Chirag Patel reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.353 WDR19 Chirag Patel Source Genetic Health Queensland was removed from WDR19.
Source Expert list was added to WDR19.
Mode of inheritance for gene WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were changed from to ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307
Intellectual disability syndromic and non-syndromic v0.351 WDR34 Chirag Patel Source Genetic Health Queensland was removed from WDR34.
Source Expert list was added to WDR34.
Mode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633
Intellectual disability syndromic and non-syndromic v0.350 WDR34 Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.349 WDR37 Chirag Patel gene: WDR37 was added
gene: WDR37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to PubMed: 31327508; 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome; OMIM #618652
Review for gene: WDR37 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.348 WNT1 Chirag Patel reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.348 WNT1 Chirag Patel Source Genetic Health Queensland was removed from WNT1.
Source Expert list was added to WNT1.
Mode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220
Intellectual disability syndromic and non-syndromic v0.347 WNT5A Chirag Patel Source Genetic Health Queensland was removed from WNT5A.
Source Expert list was added to WNT5A.
Mode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel reviewed gene: WNT5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.346 WRAP53 Chirag Patel Mode of inheritance for gene WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.345 WRAP53 Chirag Patel Source Genetic Health Queensland was removed from WRAP53.
Source Expert list was added to WRAP53.
Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3; OMIM# 613988
Intellectual disability syndromic and non-syndromic v0.343 WRAP53 Chirag Patel reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.342 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.341 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.340 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.338 HADH Zornitza Stark reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.334 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.332 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver, MIM#240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.327 GSPT2 Zornitza Stark reviewed gene: GSPT2: Rating: RED; Mode of pathogenicity: None; Publications: 28414775; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.324 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.323 GPHN Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.322 GPHN Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.321 GOSR2 Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.319 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.318 GORAB Zornitza Stark Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.317 GORAB Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.316 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.315 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialuria, MIM#269921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.314 ZNF462 Chirag Patel gene: ZNF462 was added
gene: ZNF462 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610
Phenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome; OMIM# 618619
Review for gene: ZNF462 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.313 XPA Chirag Patel Source Genetic Health Queensland was removed from XPA.
Source Expert list was added to XPA.
Mode of inheritance for gene XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A; OMIM# 278700
Intellectual disability syndromic and non-syndromic v0.312 XPA Chirag Patel reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.312 XYLT1 Chirag Patel Source Genetic Health Queensland was removed from XYLT1.
Source Expert list was added to XYLT1.
Mode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2; OMIM# 615777
Publications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343
Intellectual disability syndromic and non-syndromic v0.311 XYLT1 Chirag Patel reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.310 ZC3H14 Chirag Patel Source Genetic Health Queensland was removed from ZC3H14.
Source Expert list was added to ZC3H14.
Mode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Publications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151
Intellectual disability syndromic and non-syndromic v0.309 ZC3H14 Chirag Patel reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21734151; Phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.306 ZFP57 Chirag Patel Source Genetic Health Queensland was removed from ZFP57.
Source Expert list was added to ZFP57.
Mode of inheritance for gene ZFP57 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: ZFP57 were changed from to {Diabetes mellitus, transient neonatal, 1}; OMIM# 601410
Intellectual disability syndromic and non-syndromic v0.305 ZFP57 Chirag Patel reviewed gene: ZFP57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Diabetes mellitus, transient neonatal, 1}, OMIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.303 ZNF335 Chirag Patel Source Genetic Health Queensland was removed from ZNF335.
Source Expert list was added to ZNF335.
Mode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive; OMIM #615095
Intellectual disability syndromic and non-syndromic v0.302 ZNF335 Chirag Patel reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel changed review comment from: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of 2 other ZNF41 mutations (314995.0001-314995.0002) that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.; to: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.
Intellectual disability syndromic and non-syndromic v0.300 ZNF423 Chirag Patel Source Genetic Health Queensland was removed from ZNF423.
Source Expert list was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Publications for gene ZNF423 were changed from PMID: 22863007 to PMID: 22863007
Intellectual disability syndromic and non-syndromic v0.299 ZNF423 Chirag Patel reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.297 ZNF674 Chirag Patel Source Genetic Health Queensland was removed from ZNF674.
Source Expert list was added to ZNF674.
Mode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.296 ZNF674 Chirag Patel reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16385466; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.289 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.287 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.285 GLIS3 Zornitza Stark Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.284 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.282 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Erythrokeratodermia variabilis et progressiva 3, MIM#617525; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Palmoplantar keratoderma with congenital alopecia, MIM#104100; Syndactyly, type III, MIM# 186100
Intellectual disability syndromic and non-syndromic v0.281 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.279 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.278 GHR Zornitza Stark Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.276 GHR Zornitza Stark reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.271 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.269 GCK Zornitza Stark reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 606176; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.268 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.266 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.266 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM#614409
Intellectual disability syndromic and non-syndromic v0.265 GBA2 Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.263 GBA2 Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.261 GATA6 Zornitza Stark Mode of inheritance for gene: GATA6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.260 GATA6 Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.260 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.258 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM#314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.257 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.256 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.254 GAD1 Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.252 GAD1 Zornitza Stark reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.250 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. 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 1, MIM#618005
Review for gene: FUT8 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.248 FTL Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.246 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.244 FRMPD4 Zornitza Stark Mode of inheritance for gene: FRMPD4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.243 FRMPD4 Zornitza Stark reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 29267967; Phenotypes: Mental retardation, X-linked 104, MIM#300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.242 FRAS1 Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.241 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.240 FLVCR1 Zornitza Stark Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.238 FLVCR1 Zornitza Stark reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.237 FLNB Zornitza Stark Mode of inheritance for gene: FLNB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.235 FLNB Zornitza Stark reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.234 FGF3 Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.232 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.231 FDFT1 Zornitza Stark gene: FDFT1 was added
gene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156
Review for gene: FDFT1 was set to GREEN
Added comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association..
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.230 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from to Mental retardation, autosomal recessive 45, MIM#615979
Intellectual disability syndromic and non-syndromic v0.228 FBXO31 Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.226 FBXO31 Zornitza Stark reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.225 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.223 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.223 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100
Intellectual disability syndromic and non-syndromic v0.222 FBLN5 Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.220 FBLN5 Zornitza Stark reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.218 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.216 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
Intellectual disability syndromic and non-syndromic v0.214 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.213 FARS2 Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.212 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.211 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.210 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.206 FAAH2 Zornitza Stark Mode of inheritance for gene: FAAH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.204 FAAH2 Zornitza Stark reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.204 FA2H Zornitza Stark Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM#612319
Intellectual disability syndromic and non-syndromic v0.203 FA2H Zornitza Stark Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.201 FA2H Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.200 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.199 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.197 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.196 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451, 29656927; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM#616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.195 EXOSC2 Zornitza Stark gene: EXOSC2 was added
gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 26843489; 31628467
Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Review for gene: EXOSC2 was set to GREEN
Added comment: Three individuals from two families, but founder mutation, some functional data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.193 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.192 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.191 ETFB Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.190 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.189 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.188 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.187 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.185 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.184 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.182 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.180 ERMARD Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.178 ERMARD Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.178 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from to Spastic paraplegia 18, autosomal recessive, MIM#611225
Intellectual disability syndromic and non-syndromic v0.177 ERLIN2 Zornitza Stark Mode of inheritance for gene: ERLIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.176 ERLIN2 Zornitza Stark reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, MIM#611225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.175 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.173 ERF Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chitayat syndrome, MIM#617180, Craniosynostosis 4, MIM#600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.172 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.170 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.169 EPM2A Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.167 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.165 EOMES Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.163 EOMES Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.161 EOGT Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.159 EOGT Zornitza Stark reviewed gene: EOGT: Rating: RED; Mode of pathogenicity: None; Publications: 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.158 EIF2B5 Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.156 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.155 EIF2B4 Zornitza Stark Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.153 EIF2B4 Zornitza Stark reviewed gene: EIF2B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.152 EIF2B3 Zornitza Stark Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.150 EIF2B3 Zornitza Stark reviewed gene: EIF2B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.149 EIF2B2 Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.147 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.146 EIF2B1 Zornitza Stark Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.144 EIF2B1 Zornitza Stark reviewed gene: EIF2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.144 EFNB2 Zornitza Stark Phenotypes for gene: EFNB2 were changed from to Intellectual disability and congenital abnormalities
Intellectual disability syndromic and non-syndromic v0.142 EFNB2 Zornitza Stark Mode of inheritance for gene: EFNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.140 EFNB2 Zornitza Stark reviewed gene: EFNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29508392; Phenotypes: Intellectual disability and congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.140 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM#277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.138 EARS2 Zornitza Stark Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.137 EARS2 Zornitza Stark reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.134 CLIP2 Zornitza Stark Mode of inheritance for gene: CLIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.131 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.129 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.128 DYM Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.127 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.126 DUOXA2 Zornitza Stark Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.124 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.123 DSE Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.121 DSE Zornitza Stark reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.120 DPYS Zornitza Stark Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.119 DPYS Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.115 DPH1 Zornitza Stark Mode of inheritance for gene: DPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.114 DPH1 Zornitza Stark reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 26220823; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.113 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.111 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM#254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.110 DOCK6 Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.109 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.108 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388
Intellectual disability syndromic and non-syndromic v0.107 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.106 DNM1L Zornitza Stark reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.105 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.102 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.100 DMPK Zornitza Stark Mode of inheritance for gene: DMPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.99 DMPK Zornitza Stark reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM#160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.95 DLAT Zornitza Stark Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.94 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.88 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.86 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg-Cinotti syndrome, MIM#618175, AD, Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.85 DDB1 Zornitza Stark gene: DDB1 was added
gene: DDB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Research
Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DDB1 were set to Syndromic intellectual disability
Review for gene: DDB1 was set to GREEN
Added comment: High quality unpublished evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.82 CNTN4 Zornitza Stark Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.80 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030
Intellectual disability syndromic and non-syndromic v0.79 CYP2U1 Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.77 CYP2U1 Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.74 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.73 CUX2 Zornitza Stark reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29630738, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.72 CUBN Zornitza Stark Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.70 CUBN Zornitza Stark reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, MIM#261100, Proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.69 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 27480277; 26633546
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Review for gene: CTU2 was set to GREEN
Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.67 CTSF Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.65 CTSF Zornitza Stark reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.64 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, severe ID as part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.62 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.60 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.59 CRLF1 Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.57 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.56 CRKL Zornitza Stark Mode of inheritance for gene: CRKL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.54 CRKL Zornitza Stark reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: None; Publications: 28121514, 25565927; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.52 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.50 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.49 CP Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.47 CP Zornitza Stark reviewed gene: CP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.47 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Intellectual disability syndromic and non-syndromic v0.44 COX7B Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.41 COX4I2 Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.39 COX20 Zornitza Stark Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.37 COX20 Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: 31079202, 30656193, 24202787; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.35 COX14 Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.33 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.32 CORO1A Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.30 CORO1A Zornitza Stark reviewed gene: CORO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 8, MIM#615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.30 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.29 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.28 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM#607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.27 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.25 COL18A1 Zornitza Stark reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.25 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iil, MIM#614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.23 CNTNAP5 Zornitza Stark Mode of inheritance for gene: CNTNAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP5 Zornitza Stark reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: 20346443; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.19 CNTNAP1 Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.18 CNTNAP1 Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.18 ABCC6 Chirag Patel Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.13 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.11 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CNTN4 Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.10 CLIP2 Zornitza Stark reviewed gene: CLIP2: Rating: RED; Mode of pathogenicity: None; Publications: 22608712; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.10 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM#615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CISD2 Zornitza Stark reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25703627; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CHD3 Zornitza Stark gene: CHD3 was added
gene: CHD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD3 were set to 30397230
Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205
Review for gene: CHD3 was set to GREEN
gene: CHD3 was marked as current diagnostic
Added comment: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.9 CHD1 Zornitza Stark gene: CHD1 was added
gene: CHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682
Review for gene: CHD1 was set to GREEN
Added comment: Six unrelated individuals with heterozygous variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.8 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CFH Zornitza Stark reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CEP89 Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CEP63 Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.7 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome 609460
Review for gene: KIF1BP was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.6 CDK6 Zornitza Stark reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23918663; Phenotypes: Microcephaly 12, primary, autosomal recessive, MIM#616080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CDK16 Zornitza Stark reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6 CD96 Zornitza Stark reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847009; Phenotypes: C syndrome, MIM#211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CCDC8 Zornitza Stark reviewed gene: CCDC8: Rating: RED; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CCDC78 Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Centronuclear myopathy 4, MIM#614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CACNA1G Zornitza Stark reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 29878067; Phenotypes: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1E were set to 30343943
Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69, MIM#618285
Review for gene: CACNA1E was set to GREEN
gene: CACNA1E was marked as current diagnostic
Added comment: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5 CA8 Zornitza Stark reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 19461874; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM#614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BRAT1 Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BMPER Zornitza Stark reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphanospondylodysostosis, MIM#608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 BDNF Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 BBIP1 Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481; Phenotypes: Joubert syndrome 34, MIM#614175, Meckel syndrome 10, MIM#614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B4GALT1 Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5 AVP Zornitza Stark reviewed gene: AVP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal, MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 ATXN10 Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 10, MIM#603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 ATP8A2 Zornitza Stark reviewed gene: ATP8A2: Rating: ; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972
Review for gene: ATP6AP1 was set to GREEN
gene: ATP6AP1 was marked as current diagnostic
Added comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Darier disease, MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, MIM#614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATP10A Zornitza Stark reviewed gene: ATP10A: Rating: RED; Mode of pathogenicity: None; Publications: 31696658; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ATAD1 was set to GREEN
gene: ATAD1 was marked as current diagnostic
Added comment: Severe progressive neurological disorder, severe/profound intellectual disability is a feature
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Review for gene: ASTN1 was set to GREEN
gene: ASTN1 was marked as current diagnostic
Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2 ASL Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria, MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2 ASH1L Zornitza Stark gene: ASH1L was added
gene: ASH1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329
Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796
Review for gene: ASH1L was set to GREEN
gene: ASH1L was marked as current diagnostic
Added comment: Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1 ARNT2 Zornitza Stark reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24022475; Phenotypes: Webb-Dattani syndrome 615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ARHGAP31 Zornitza Stark reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1 APTX Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ANKH Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1 ALX3 Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 1, MIM#136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending, MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ABAT Zornitza Stark edited their review of gene: ABAT: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM#229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease XII, MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 8, MIM#614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AHCY Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGT Zornitza Stark reviewed gene: AGT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGPS Zornitza Stark reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGK Zornitza Stark reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM#208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADD3 Zornitza Stark reviewed gene: ADD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768408, 23836506; Phenotypes: Cerebral palsy, spastic quadriplegic, 3, MIM#617008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.0 ADAT3 Zornitza Stark reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286; Phenotypes: Mental retardation, autosomal recessive 36, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADAMTS10 Zornitza Stark reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM#277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ACTA1 Zornitza Stark reviewed gene: ACTA1: Rating: RED; Mode of pathogenicity: None; Publications: 21514153; Phenotypes: Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800, Nemaline myopathy 3, MIM#161800, Myopathy, actin, congenital, with cores, MIM#161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 2, MIM#618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes