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Intellectual disability syndromic and non-syndromic v0.2116 ZNF148 Chirag Patel Classified gene: ZNF148 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2116 ZNF148 Chirag Patel Gene: znf148 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2115 ZNF148 Chirag Patel gene: ZNF148 was added
gene: ZNF148 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to PMID: 27964749
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; OMIM #617260
Review for gene: ZNF148 was set to GREEN
Added comment: 4 patients with de novo heterozygous nonsense or frameshift mutations in the ZNF148 gene. Patients characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Marked gene: EML1 as ready
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Intellectual disability syndromic and non-syndromic v0.2113 EML1 Zornitza Stark Publications for gene: EML1 were set to
Intellectual disability syndromic and non-syndromic v0.2112 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2111 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Marked gene: WAC as ready
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Gene: wac has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome 616708
Intellectual disability syndromic and non-syndromic v0.2110 WAC Zornitza Stark Publications for gene: WAC were set to
Intellectual disability syndromic and non-syndromic v0.2109 WAC Zornitza Stark Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2108 WAC Melanie Marty edited their review of gene: WAC: Changed phenotypes: Desanto-Shinawi syndrome 616708
Intellectual disability syndromic and non-syndromic v0.2108 WAC Melanie Marty reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232; Phenotypes: Desanto-Shinawi syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2108 GLS Zornitza Stark edited their review of gene: GLS: Added comment: In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.; Changed mode of pathogenicity: Other; Changed publications: 30970188, 30239721; Changed phenotypes: Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark edited their review of gene: PIGH: Changed publications: 29573052, 29603516
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Marked gene: PIGH as ready
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Publications for gene: PIGH were set to 29573052; 29603510
Intellectual disability syndromic and non-syndromic v0.2107 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2107 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2106 PIGH Zornitza Stark edited their review of gene: PIGH: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2106 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29573052; 29603510
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010
Review for gene: PIGH was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2105 PIGC Zornitza Stark reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2104 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to 24726473
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2101 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24726473; Phenotypes: Marden-Walker syndrome, MIM# 248700, Arthrogryposis, distal, type 3, MIM# 114300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Phenotypes for gene: PHACTR1 were changed from Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder to Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2099 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902; 28135719; 23033978; 27457812
Phenotypes for gene: PHACTR1 were set to Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Penetrance for gene: PHACTR1 were set to Incomplete
Mode of pathogenicity for gene: PHACTR1 was set to Other
Review for gene: PHACTR1 was set to GREEN
gene: PHACTR1 was marked as current diagnostic
Added comment: 6 unrelated individuals reported altogether with variants in this gene. Several as part of large cohorts, so limited variant and patient characterisation. One variant reported by de Ligt et al is present in the population (4 individuals) suggesting reduced penetrance. However, functional data (including mouse model) for this and other variants exerting a dominant negative effect.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Marked gene: PET100 as ready
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, MIM# 220110
Intellectual disability syndromic and non-syndromic v0.2097 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Intellectual disability syndromic and non-syndromic v0.2096 PET100 Zornitza Stark Publications for gene: PET100 were set to
Intellectual disability syndromic and non-syndromic v0.2095 PET100 Zornitza Stark Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2094 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2094 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2093 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2092 PDHB Zornitza Stark edited their review of gene: PDHB: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Marked gene: PCDH10 as ready
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2091 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.2090 PCDH10 Zornitza Stark Publications for gene: PCDH10 were set to
Intellectual disability syndromic and non-syndromic v0.2089 PCDH10 Zornitza Stark Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2088 PCDH10 Zornitza Stark Classified gene: PCDH10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2088 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2087 PCDH10 Zornitza Stark reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Marked gene: PAX7 as ready
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578
Intellectual disability syndromic and non-syndromic v0.2086 PAX7 Zornitza Stark Mode of inheritance for gene: PAX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2085 PAX7 Zornitza Stark Classified gene: PAX7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2085 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2084 PAX7 Zornitza Stark reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, progressive, with scoliosis, MIM# 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2083 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to 28805828; 28272532
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM# 617729
Review for gene: OSGEP was set to GREEN
gene: OSGEP was marked as current diagnostic
Added comment: 25 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2080 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark edited their review of gene: LYST: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark changed review comment from: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.; to: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true ID including in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2079 LYST Zornitza Stark commented on gene: LYST: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636 to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Gene: lrp5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Classified gene: LRP5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Gene: lrp5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2077 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813, Hyperostosis, endosteal, MIM# 144750, Osteopetrosis, autosomal dominant 1, MIM# 607634, Osteoporosis-pseudoglioma syndrome, MIM# 259770, Osteosclerosis, MIM# 144750, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875, van Buchem disease, type 2 607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Marked gene: LNPK as ready
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2076 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Intellectual disability syndromic and non-syndromic v0.2075 LNPK Zornitza Stark Publications for gene: LNPK were set to
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2073 LNPK Zornitza Stark reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380
Intellectual disability syndromic and non-syndromic v0.2072 LMBRD1 Zornitza Stark Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2071 LMBRD1 Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Classified gene: LIPT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2070 LIPT2 Zornitza Stark gene: LIPT2 was added
gene: LIPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203
Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Review for gene: LIPT2 was set to AMBER
Added comment: Three individuals from two unrelated families; profound ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Gene: las1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Intellectual disability syndromic and non-syndromic v0.2068 LAS1L Zornitza Stark Publications for gene: LAS1L were set to
Intellectual disability syndromic and non-syndromic v0.2067 LAS1L Zornitza Stark reviewed gene: LAS1L: Rating: ; Mode of pathogenicity: None; Publications: 25644381, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923
Intellectual disability syndromic and non-syndromic v0.2066 KIF4A Zornitza Stark Publications for gene: KIF4A were set to
Intellectual disability syndromic and non-syndromic v0.2066 KIF4A Zornitza Stark Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2065 KIF4A Zornitza Stark Classified gene: KIF4A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2065 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF4A Zornitza Stark reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Marked gene: KIF2A as ready
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2063 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282
Phenotypes for gene: KIF2A were set to Cortical dysplasia, complex, with other brain malformations 3, 615411
Review for gene: KIF2A was set to GREEN
gene: KIF2A was marked as current diagnostic
Added comment: Five unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2061 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile 57, 617771
Mode of pathogenicity for gene: KCNT2 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: KCNT2 was set to GREEN
gene: KCNT2 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Marked gene: KCNK4 as ready
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Classified gene: KCNK4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2059 KCNK4 Zornitza Stark gene: KCNK4 was added
gene: KCNK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381
Mode of pathogenicity for gene: KCNK4 was set to Other
Review for gene: KCNK4 was set to GREEN
Added comment: Three unrelated individuals reported with a distinctive syndromic ID condition and de novo variants (two of the individuals had the same variant). Likely GoF as KO mice do not share the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2058 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2057 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Marked gene: KATNAL2 as ready
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.2057 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to 22495311; 21572417; 22495309; 22495306
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2055 KATNAL2 Zornitza Stark Classified gene: KATNAL2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2055 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2054 KATNAL2 Zornitza Stark reviewed gene: KATNAL2: Rating: RED; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Intellectual disability syndromic and non-syndromic v0.2053 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Intellectual disability syndromic and non-syndromic v0.2052 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Classified gene: ITGA7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2050 ITGA7 Zornitza Stark reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Intellectual disability syndromic and non-syndromic v0.2049 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Intellectual disability syndromic and non-syndromic v0.2048 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2047 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 31279336, 31106229; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Intellectual disability syndromic and non-syndromic v0.2046 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Intellectual disability syndromic and non-syndromic v0.2045 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2044 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2044 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2043 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Marked gene: INSR as ready
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Phenotypes for gene: INSR were changed from to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Intellectual disability syndromic and non-syndromic v0.2042 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2041 INSR Zornitza Stark Classified gene: INSR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2041 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2040 INSR Zornitza Stark reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Intellectual disability, autosomal recessive 13 (MIM# 613192)
Intellectual disability syndromic and non-syndromic v0.2039 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Intellectual disability syndromic and non-syndromic v0.2039 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2038 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Marked gene: IGBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to 14556245
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2035 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2035 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78, MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Marked gene: HTT as ready
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Gene: htt has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Classified gene: HTT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Gene: htt has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2034 HTT Zornitza Stark gene: HTT was added
gene: HTT was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: HTT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTT were set to 26740508; 27329733
Phenotypes for gene: HTT were set to Lopes-Maciel-Rodan syndrome, 617435; LOMARS; Intellectual disability
Review for gene: HTT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants in this gene and a neurodevelopmental phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2033 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Growth delay, microcephaly and intellectual disability
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Marked gene: HIST1H4C as ready
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from to Growth delay, microcephaly and intellectual disability
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to 28920961
Intellectual disability syndromic and non-syndromic v0.2031 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to
Intellectual disability syndromic and non-syndromic v0.2031 HIST1H4C Zornitza Stark Mode of inheritance for gene: HIST1H4C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2030 HIST1H4C Zornitza Stark Classified gene: HIST1H4C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2030 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2029 HIST1H4C Zornitza Stark reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: None; Publications: 28920961; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, MIM# 615516 to Mental retardation, autosomal recessive 38, MIM# 615516
Intellectual disability syndromic and non-syndromic v0.2028 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2027 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38, MIM# 615516
Intellectual disability syndromic and non-syndromic v0.2027 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Intellectual disability syndromic and non-syndromic v0.2026 HERC2 Zornitza Stark Classified gene: HERC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2026 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2025 HERC2 Zornitza Stark Classified gene: HERC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2025 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2024 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23243086, 23065719; Phenotypes: Mental retardation, autosomal recessive 38 615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Gene: hax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2023 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2023 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2022 HAX1 Zornitza Stark Classified gene: HAX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2022 HAX1 Zornitza Stark Gene: hax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2021 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2020 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2020 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Intellectual disability syndromic and non-syndromic v0.2019 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2018 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2018 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2017 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.2016 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.2015 GTF3C3 Zornitza Stark Publications for gene: GTF3C3 were set to
Intellectual disability syndromic and non-syndromic v0.2014 GTF3C3 Zornitza Stark Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2013 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MIM#152950
Intellectual disability syndromic and non-syndromic v0.2012 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Intellectual disability syndromic and non-syndromic v0.2012 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Marked gene: GSS as ready
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, MIM# 266130 to Glutathione synthetase deficiency, MIM# 266130
Intellectual disability syndromic and non-syndromic v0.2010 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Intellectual disability syndromic and non-syndromic v0.2009 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2008 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Marked gene: GRIN2D as ready
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Classified gene: GRIN2D as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2007 GRIN2D Zornitza Stark gene: GRIN2D was added
gene: GRIN2D was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2D were set to 27616483; 30280376
Phenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability
Mode of pathogenicity for gene: GRIN2D was set to Other
Review for gene: GRIN2D was set to GREEN
gene: GRIN2D was marked as current diagnostic
Added comment: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2006 KIF11 Ee Ming Wong reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27212378, 24281367; Phenotypes: 1. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (OMIM), 2. Familial exudative vitreoretinopathy (FEVR) (PMID: 27212378); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Marked gene: GRIA1 as ready
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2005 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Phenotypes for gene: GRIA1 were set to Intellectual disability; autism
Review for gene: GRIA1 was set to GREEN
Added comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2004 GPHN Zornitza Stark Publications for gene: GPHN were set to
Intellectual disability syndromic and non-syndromic v0.2003 GPHN Zornitza Stark Classified gene: GPHN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2003 GPHN Zornitza Stark Gene: gphn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2002 GPHN Zornitza Stark Tag SV/CNV tag was added to gene: GPHN.
Intellectual disability syndromic and non-syndromic v0.2002 GPHN Zornitza Stark edited their review of gene: GPHN: Added comment: Only two families reported with bi-allelic variants. Also note reports of mono-allelic deletions associated with ID/autism/SZ.; Changed rating: AMBER; Changed publications: 22040219, 26613940, 24561070, 23393157; Changed phenotypes: Molybdenum cofactor deficiency C, MIM#615501, intellectual disability; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2002 GORAB Zornitza Stark Classified gene: GORAB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2002 GORAB Zornitza Stark Gene: gorab has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2001 GORAB Zornitza Stark edited their review of gene: GORAB: Added comment: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2001 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Intellectual disability syndromic and non-syndromic v0.2001 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Intellectual disability syndromic and non-syndromic v0.2001 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Intellectual disability syndromic and non-syndromic v0.2000 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Intellectual disability syndromic and non-syndromic v0.1999 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Intellectual disability syndromic and non-syndromic v0.1999 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1998 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1998 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1997 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from Episodic ataxia to Episodic ataxia
Intellectual disability syndromic and non-syndromic v0.1996 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia
Intellectual disability syndromic and non-syndromic v0.1995 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Intellectual disability syndromic and non-syndromic v0.1994 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1993 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1993 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1992 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1992 UBR4 Belinda Chong reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Marked gene: GMNN as ready
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Gene: gmnn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Classified gene: GMNN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Gene: gmnn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1991 GMNN Zornitza Stark gene: GMNN was added
gene: GMNN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, MIM# 616835
Review for gene: GMNN was set to AMBER
Added comment: Two of the three reported individuals had ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Classified gene: TRAPPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1989 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Marked gene: SNX27 as ready
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Classified gene: SNX27 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1987 SNX27 Zornitza Stark gene: SNX27 was added
gene: SNX27 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to intellectual disability; seizures
Review for gene: SNX27 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Classified gene: PMPCB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1985 PMPCB Zornitza Stark gene: PMPCB was added
gene: PMPCB was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Review for gene: PMPCB was set to GREEN
Added comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Marked gene: NSF as ready
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Classified gene: NSF as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1983 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Classified gene: KAT8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1981 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1980 TRAPPC9 Ain Roesley reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30853973; Phenotypes: Intellectual disability, autosomal recessive 13 (MIM# 613192); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Gene: glra1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1, MIM# 149400 to Hyperekplexia 1, MIM# 149400
Intellectual disability syndromic and non-syndromic v0.1979 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Classified gene: GLRA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Gene: glra1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1977 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1977 GJB1 Zornitza Stark edited their review of gene: GJB1: Added comment: PMID 26385972 reports cognitive impairment in 4 adult cases and PMID 23279342 reports a proband and her sister with severe neuropathy and subclinical cognitive impairment, while the proband's brother showed severe cognitive impairment and mild neuropathy. Based on the current evidence, ID does not appear to be a prominent or consistent part of the phenotype of this neuropathy.; Changed publications: 26385972, 23279342
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Marked gene: GEMIN4 as ready
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Phenotypes for gene: GEMIN4 were changed from to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Publications for gene: GEMIN4 were set to
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Amber List (Moderate Evidence).
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 v0.1975 GBA Zornitza Stark Marked gene: GBA as ready
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, type II 230900
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 v0.1973 GBA Zornitza Stark Classified gene: GBA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1973 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
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 v0.1972 GAN Zornitza Stark Marked gene: GAN as ready
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, MIM# 256850
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 v0.1970 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1970 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
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 v0.1969 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Classified gene: GABRA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
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 v0.1967 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Classified gene: GABBR2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
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 v0.1965 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Intellectual disability syndromic and non-syndromic v0.1964 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
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 Marked gene: G6PC3 as ready
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Red List (Low Evidence).
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 v0.1961 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
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 v0.1959 G6PC3 Zornitza Stark Classified gene: G6PC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1959 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Red List (Low Evidence).
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 v0.1958 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from Kleefstra syndrome 1 (MIM#610253) to Kleefstra syndrome 1 (MIM#610253)
Intellectual disability syndromic and non-syndromic v0.1957 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)
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 v0.1955 FTO Zornitza Stark Marked gene: FTO as ready
Intellectual disability syndromic and non-syndromic v0.1955 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1955 FTO Zornitza Stark Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938
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 v0.1953 FTO Zornitza Stark Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938
Intellectual disability syndromic and non-syndromic v0.1952 FTO Zornitza Stark Publications for gene: FTO were set to
Intellectual disability syndromic and non-syndromic v0.1951 FTO Zornitza Stark Classified gene: FTO as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1951 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
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 v0.1950 FRRS1L Zornitza Stark Marked gene: FRRS1L as ready
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Classified gene: FRRS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
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 v0.1948 FIBP Zornitza Stark Marked gene: FIBP as ready
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome, MIM#617107 to Thauvin-Robinet-Faivre syndrome, MIM#617107
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
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 v0.1947 FIBP Zornitza Stark Publications for gene: FIBP were set to
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 v0.1946 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
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 v0.1945 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Hartsfield syndrome, MIM# 615465
Intellectual disability syndromic and non-syndromic v0.1944 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
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 v0.1942 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600
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 v0.1940 TKFC Zornitza Stark Marked gene: TKFC as ready
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
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 v0.1938 RALGAPA1 Zornitza Stark Marked gene: RALGAPA1 as ready
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Classified gene: RALGAPA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
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 v0.1936 FDXR Zornitza Stark Marked gene: FDXR as ready
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
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 v0.1934 FDXR Zornitza Stark Classified gene: FDXR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1934 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
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 v0.1933 FANCG Zornitza Stark Marked gene: FANCG as ready
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Gene: fancg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anemia, complementation group G, MIM# 614082
Intellectual disability syndromic and non-syndromic v0.1932 FANCB Zornitza Stark Marked gene: FANCB as ready
Intellectual disability syndromic and non-syndromic v0.1932 FANCB Zornitza Stark Gene: fancb has been classified as Amber List (Moderate Evidence).
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 v0.1931 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514
Intellectual disability syndromic and non-syndromic v0.1931 FANCG Zornitza Stark Classified gene: FANCG as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1931 FANCG Zornitza Stark Gene: fancg has been classified as Amber List (Moderate Evidence).
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 v0.1929 FANCD2 Zornitza Stark Classified gene: FANCD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1929 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Amber List (Moderate Evidence).
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 v0.1928 FANCB Zornitza Stark Classified gene: FANCB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1928 FANCB Zornitza Stark Gene: fancb has been classified as Amber List (Moderate Evidence).
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 Marked gene: EPB41L1 as ready
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
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 v0.1926 EPB41L1 Zornitza Stark Publications for gene: EPB41L1 were set to
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 v0.1924 EPB41L1 Zornitza Stark Classified gene: EPB41L1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1924 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
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 v0.1923 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Classified gene: EMG1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
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 v0.1921 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Classified gene: EMC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
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 v0.1919 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110
Intellectual disability syndromic and non-syndromic v0.1918 EFNB1 Zornitza Stark Mode of inheritance for gene: EFNB1 was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1917 EFNB1 Zornitza Stark Classified gene: EFNB1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1917 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1916 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Intellectual disability syndromic and non-syndromic v0.1915 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
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 Tag SV/CNV tag was added to gene: ATAD3A.
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 Marked gene: DPM3 as ready
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
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 v0.1911 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Intellectual disability syndromic and non-syndromic v0.1910 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Intellectual disability syndromic and non-syndromic v0.1909 DPM3 Zornitza Stark Classified gene: DPM3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1909 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
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 v0.1908 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Intellectual disability syndromic and non-syndromic v0.1907 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
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 v0.1905 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1905 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
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 v0.1904 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192
Intellectual disability syndromic and non-syndromic v0.1903 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
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 v0.1901 DNAJC3 Zornitza Stark Classified gene: DNAJC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1901 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1900 DNAJC3 Zornitza Stark reviewed gene: DNAJC3: Rating: RED; Mode of pathogenicity: None; Publications: 25466870, 28940199; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1900 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Intellectual disability syndromic and non-syndromic v0.1899 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Intellectual disability syndromic and non-syndromic v0.1898 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1896 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Classified gene: DLAT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Gene: dlat has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DLAT Zornitza Stark edited their review of gene: DLAT: Added comment: Only two families with ID reported; third individual had paroxysmal dyskinesia.; Changed rating: AMBER; Changed publications: 16049940, 29093066
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Intellectual disability syndromic and non-syndromic v0.1894 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
Intellectual disability syndromic and non-syndromic v0.1893 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.1892 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1891 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark Tag 5'UTR tag was added to gene: DIP2B.
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Classified gene: DENND5A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1888 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DENND5A were set to 27431290; 27866705
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Review for gene: DENND5A was set to GREEN
Added comment: Four unrelated families, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Marked gene: DCPS as ready
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1886 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1884 CWF19L1 Zornitza Stark gene: CWF19L1 was added
gene: CWF19L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 15981765; 26197978; 27016154; 30167849
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Review for gene: CWF19L1 was set to GREEN
gene: CWF19L1 was marked as current diagnostic
Added comment: Three unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1882 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, MIM#618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Marked gene: CRBN as ready
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Phenotypes for gene: CRBN were changed from to Mental retardation, autosomal recessive 2, MIM# 607417
Intellectual disability syndromic and non-syndromic v0.1880 CRBN Zornitza Stark Publications for gene: CRBN were set to
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Classified gene: CRBN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1878 CRBN Zornitza Stark reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: None; Publications: 15557513, 28143899; Phenotypes: Mental retardation, autosomal recessive 2, MIM# 607417; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Classified gene: COQ9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Gene: coq9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1877 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Reviewed again: severe neonatal presentation with metabolic decompensation, including neurological features such as abnormal tone and seizures, but not intellectual disability as such. Downgrade to Amber on this panel.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Classified gene: COQ2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Gene: coq2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COQ2 Zornitza Stark edited their review of gene: COQ2: Added comment: On further review of the literature, there is poor documentation of intellectual disability as such in the molecularly confirmed cases. Presentation is much more commonly with renal or multi-system disease.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1875 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MIM# 248340
Intellectual disability syndromic and non-syndromic v0.1874 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Classified gene: COLEC10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1872 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: RED; Mode of pathogenicity: None; Publications: 28301481; Phenotypes: 3MC syndrome 3, MIM# 248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1872 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Intellectual disability syndromic and non-syndromic v0.1871 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Classified gene: COL1A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Marked gene: COA3 as ready
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Publications for gene: COA3 were set to 25604084
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Publications for gene: COA3 were set to
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1866 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1866 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Marked gene: CLPP as ready
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Intellectual disability syndromic and non-syndromic v0.1863 CLPP Zornitza Stark Publications for gene: CLPP were set to
Intellectual disability syndromic and non-syndromic v0.1862 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Classified gene: CLPP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CLPP Zornitza Stark reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 23541340; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Intellectual disability syndromic and non-syndromic v0.1859 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Intellectual disability syndromic and non-syndromic v0.1858 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Classified gene: CHRNA4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CHRNA4 Zornitza Stark reviewed gene: CHRNA4: Rating: RED; Mode of pathogenicity: None; Publications: 14623738; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1856 CHD1 Zornitza Stark edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1855 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to IMAGE syndrome, MIM# 614732
Intellectual disability syndromic and non-syndromic v0.1853 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGE syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1850 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Intellectual disability syndromic and non-syndromic v0.1849 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507
Intellectual disability syndromic and non-syndromic v0.1846 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Intellectual disability syndromic and non-syndromic v0.1845 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1844 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Classified gene: CARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1843 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 30139652; 25787132
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672
Review for gene: CARS2 was set to GREEN
Added comment: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Intellectual disability syndromic and non-syndromic v0.1841 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Classified gene: CANT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desbuquois dysplasia 1, MIM# 251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Marked gene: CA5A as ready
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Intellectual disability syndromic and non-syndromic v0.1838 CA5A Zornitza Stark Publications for gene: CA5A were set to
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Added comment: Comment when marking as ready: Monoallelic variants associated with ID; bi-allelic variants associated with neuropathy/spastic paraplegia phenotypes.
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9, MIM#614255
Intellectual disability syndromic and non-syndromic v0.1836 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Intellectual disability syndromic and non-syndromic v0.1835 KIF1A Zornitza Stark Mode of pathogenicity for gene: KIF1A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1834 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Added comment: Comment when marking as ready: At least three unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Intellectual disability syndromic and non-syndromic v0.1832 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Intellectual disability syndromic and non-syndromic v0.1831 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1829 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1828 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type
Intellectual disability syndromic and non-syndromic v0.1827 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1826 HUWE1 Zornitza Stark reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Turner type; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138; LAMA2-related muscular dystrophy (suggested by PMID: 30055037)
Intellectual disability syndromic and non-syndromic v0.1825 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Intellectual disability syndromic and non-syndromic v0.1824 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Marked gene: EBP as ready
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Added comment: Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1821 EBP Zornitza Stark Tag somatic tag was added to gene: EBP.
Intellectual disability syndromic and non-syndromic v0.1821 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1820 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Intellectual disability syndromic and non-syndromic v0.1819 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1818 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Intellectual disability syndromic and non-syndromic v0.1817 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Intellectual disability syndromic and non-syndromic v0.1816 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Intellectual disability syndromic and non-syndromic v0.1814 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
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 v0.1812 GNAS Zornitza Stark Marked gene: GNAS as ready
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia (103580); Pseudohypoparathyroidism Ib (603233); Pseudohypoparathyroidism Ic (612462); Pseudopseudohypoparathyroidism (612463)
Intellectual disability syndromic and non-syndromic v0.1811 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Intellectual disability syndromic and non-syndromic v0.1809 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Intellectual disability syndromic and non-syndromic v0.1808 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
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 v0.1806 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
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 v0.1804 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Intellectual disability syndromic and non-syndromic v0.1803 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
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 v0.1801 IARS Zornitza Stark Marked gene: IARS as ready
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Intellectual disability syndromic and non-syndromic v0.1800 IARS Zornitza Stark Publications for gene: IARS were set to
Intellectual disability syndromic and non-syndromic v0.1799 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1798 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Intellectual disability syndromic and non-syndromic v0.1796 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 GNAS Michelle Torres Deleted their review
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1795 MYT1L Michelle Torres reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 39 616521 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Intellectual disability syndromic and non-syndromic v0.1794 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Intellectual disability syndromic and non-syndromic v0.1793 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Intellectual disability syndromic and non-syndromic v0.1792 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1791 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.1790 CAD Zornitza Stark Marked gene: CAD as ready
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1789 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 25678555; 28007989; 30914295
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457
Review for gene: CAD was set to GREEN
gene: CAD was marked as current diagnostic
Added comment: Four unrelated families (two with same variant and Roma background, likely founder).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Mode of inheritance for gene: CACNG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1787 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Intellectual disability syndromic and non-syndromic v0.1786 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1784 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome (MIM #617450)
Intellectual disability syndromic and non-syndromic v0.1783 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Intellectual disability syndromic and non-syndromic v0.1782 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Classified gene: CLCNKA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Added comment: Two families reported, and note digenic inheritance for Bartter postulated. PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C). PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

ID has been described for Bartter, but since gene-disease association for Bartter itself is not well established, demote to Red.; Changed rating: RED
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 v0.1780 CACNA2D2 Zornitza Stark Marked gene: CACNA2D2 as ready
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Classified gene: CACNA2D2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1779 CACNA2D2 Zornitza Stark gene: CACNA2D2 was added
gene: CACNA2D2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay, MIM#618501
Review for gene: CACNA2D2 was set to GREEN
Added comment: Multiple affected individuals reported; DD/ID is variable but present in most.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1778 CA5A Zornitza Stark Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 CA5A Zornitza Stark reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1775 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 26854863; 27008867
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Intellectual disability syndromic and non-syndromic v0.1772 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30097616, 27094867, 26477546, 24997988; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BSND Zornitza Stark edited their review of gene: BSND: Added comment: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1771 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1769 BMPER Zornitza Stark edited their review of gene: BMPER: Added comment: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Centronuclear myopathy 2, MIM# 255200 to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1768 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1764 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Mode of pathogenicity for gene: ATP6V1A was set to Other
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Both mono-allelic and bi-allelic variants associated with ID, evidence for both LoF and GoF for the mono-allelic variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1762 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1761 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1760 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1759 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
gene: FBXW11 was marked as current diagnostic
Added comment: Reported in >3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
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 v0.1756 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Marked gene: ASMT as ready
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Publications for gene: ASMT were set to 21251267
Intellectual disability syndromic and non-syndromic v0.1754 ASMT Zornitza Stark Publications for gene: ASMT were set to
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1752 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1752 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from MENTAL RETARDATION X-LINKED TYPE 46 to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Marked gene: ARHGEF6 as ready
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to 11017088
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Marked gene: AR as ready
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Phenotypes for gene: AR were changed from to Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1748 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1746 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Classified gene: AR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 AR Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37 615493
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Intellectual disability syndromic and non-syndromic v0.1741 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Classified gene: ALX4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1739 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Classified gene: ALX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Gene: alx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1738 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Majority have normal intellectual function, demote to Amber.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1737 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1736 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1735 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1731 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31921405, 28472301, 25620733; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1731 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG syndrome, MIM # 148050 to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Classified gene: ALDOB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 ALDOB Zornitza Stark edited their review of gene: ALDOB: Added comment: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1726 AHCY Zornitza Stark Publications for gene: AHCY were set to
Intellectual disability syndromic and non-syndromic v0.1725 AHCY Zornitza Stark edited their review of gene: AHCY: Changed publications: 31957987, 27671891, 30121674, 28779239
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1724 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1722 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Marked gene: AGL as ready
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa, MIM# 232400
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Classified gene: AGL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 AGL Zornitza Stark reviewed gene: AGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Marked gene: CNOT1 as ready
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Classified gene: CNOT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1718 CNOT1 Sebastian Lunke gene: CNOT1 was added
gene: CNOT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: From GEL: More than three independent families previously described
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1716 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1714 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079; Phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Marked gene: CCDC47 as ready
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1711 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM# 203750
Intellectual disability syndromic and non-syndromic v0.1710 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Classified gene: ACAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark commented on gene: ACAT1: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM# 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from 2-methylbutyrylglycinuria, MIM# 610006 to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1707 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1706 ACADSB Zornitza Stark Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Classified gene: ACADSB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 ACADSB Zornitza Stark reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, MIM# 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
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 Marked gene: SLC6A9 as ready
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine 617301 to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Intellectual disability syndromic and non-syndromic v0.1700 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1699 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429; Phenotypes: Glycine encephalopathy with normal serum glycine 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Marked gene: DHFR as ready
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Intellectual disability syndromic and non-syndromic v0.1698 DHFR Zornitza Stark Publications for gene: DHFR were set to
Intellectual disability syndromic and non-syndromic v0.1697 DHFR Zornitza Stark Mode of inheritance for gene: DHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1696 DHFR Zornitza Stark reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1696 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
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 v0.1694 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Intellectual disability syndromic and non-syndromic v0.1693 SLC39A8 Zornitza Stark reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Marked gene: PIGS as ready
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1692 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Marked gene: FUK as ready
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1690 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1688 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1686 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1684 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals. 13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Additional unpublished case reported by GEL PanelApp.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
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 v0.1680 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
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 v0.1679 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1677 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Marked gene: NBEA as ready
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1675 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1673 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo, likely GoF variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1672 Zornitza Stark removed gene:LNP1 from the panel
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Intellectual disability syndromic and non-syndromic v0.1670 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Intellectual disability syndromic and non-syndromic v0.1669 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1666 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1664 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
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 v0.1663 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
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 v0.1660 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
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 v0.1659 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1658 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported, EE/DD. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1656 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Marked gene: DHPS as ready
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
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 v0.1653 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
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 v0.1651 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1650 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: Multiple affected families, DD/ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to 24664471
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1648 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Marked gene: DDOST as ready
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1646 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1646 DDOST Zornitza Stark Publications for gene: DDOST were set to
Intellectual disability syndromic and non-syndromic v0.1645 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
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 v0.1643 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1641 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
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 v0.1638 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
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 v0.1635 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
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 v0.1633 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
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 v0.1631 TP73 Zornitza Stark Marked gene: TP73 as ready
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Classified gene: TP73 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
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 v0.1629 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Classified gene: SMG8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
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 v0.1627 IQSEC3 Zornitza Stark Marked gene: IQSEC3 as ready
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Classified gene: IQSEC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
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 v0.1625 ICE1 Zornitza Stark Marked gene: ICE1 as ready
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Classified gene: ICE1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
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 v0.1623 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Marked gene: EIF2A as ready
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
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 v0.1620 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
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 Marked gene: CTNND2 as ready
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Intellectual disability; Autism; Epilepsy
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 v0.1617 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
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 v0.1615 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
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 v0.1613 POLA1 Alison Yeung Marked gene: POLA1 as ready
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Classified gene: POLA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
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 v0.1611 GPC4 Alison Yeung Marked gene: GPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
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 v0.1608 CARS Alison Yeung Marked gene: CARS as ready
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
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 v0.1606 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
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 v0.1604 NCAPG2 Alison Yeung Marked gene: NCAPG2 as ready
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
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 v0.1601 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
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 v0.1599 TET3 Zornitza Stark Marked gene: TET3 as ready
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
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 v0.1596 Sebastian Lunke Panel name changed from Intellectual disability, syndromic and non-syndromic to Intellectual disability syndromic and non-syndromic
Intellectual disability syndromic and non-syndromic v0.1595 Zornitza Stark Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS to Intellectual disability, syndromic and non-syndromic
Panel types changed to Genetic Health Queensland; Victorian Clinical Genetics Services
Intellectual disability syndromic and non-syndromic v0.1594 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Classified gene: HK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Gene: hk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Marked gene: HK1 as ready
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Gene: hk1 has been classified as Red List (Low Evidence).
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 v0.1591 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Intellectual disability syndromic and non-syndromic v0.1590 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
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 v0.1588 FARSB Zornitza Stark Marked gene: FARSB as ready
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Classified gene: FARSB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
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 v0.1586 FAM160B1 Zornitza Stark Marked gene: FAM160B1 as ready
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Gene: fam160b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090 to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1585 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Gene: clcnka has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Intellectual disability syndromic and non-syndromic v0.1583 CLCNKB Zornitza Stark Mode of inheritance for gene: CLCNKB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Marked gene: COASY as ready
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Gene: coasy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Other to Other
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1580 COASY Zornitza Stark Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1580 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Congenital disorder of glycosylation, type Iil, MIM#614576 to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Marked gene: COG6 as ready
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Publications for gene: COASY were set to 24360804; 30089828
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Publications for gene: COASY were set to
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 v0.1576 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
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 v0.1574 ETFA Zornitza Stark Marked gene: ETFA as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1573 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
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 v0.1571 MED17 Zornitza Stark Marked gene: MED17 as ready
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Intellectual disability syndromic and non-syndromic v0.1570 MED17 Zornitza Stark Publications for gene: MED17 were set to
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 v0.1568 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 18513682; 28857146
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
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 v0.1566 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234
Intellectual disability syndromic and non-syndromic v0.1565 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
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 Marked gene: PIGG as ready
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
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 v0.1561 PIGG Zornitza Stark Publications for gene: PIGG were set to 26996948
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 Publications for gene: PIGG were set to
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 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
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 v0.1556 SCN9A Zornitza Stark Classified gene: SCN9A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Gene: sema3e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, MIM#214800 to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
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 v0.1552 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1551 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1550 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
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 v0.1548 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Marked gene: SPART as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Marked gene: SVBP as ready
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Marked gene: TBCD as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1547 TBCD Zornitza Stark Publications for gene: TBCD were set to
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 v0.1545 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Marked gene: TERT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Marked gene: TKT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Marked gene: XPA as ready
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from to None
Intellectual disability syndromic and non-syndromic v0.1544 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to
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 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Gene: magt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
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 v0.1540 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Marked gene: SNRPN as ready
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Tag SV/CNV tag was added to gene: SNRPN.
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Classified gene: TCTN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Marked gene: TUFM as ready
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Marked gene: KLLN as ready
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Marked gene: MET as ready
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Gene: mgme1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Marked gene: MGP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Marked gene: MID2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Gene: mid2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Gene: mnx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Marked gene: MPZ as ready
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Marked gene: MRAP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Gene: mrap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families and functional data.
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
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 v0.1535 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Phenotypes for gene: STAG2 were changed from to Mullegama-Klein-Martinez syndrome, MIM#301022
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
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 v0.1533 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Intellectual disability syndromic and non-syndromic v0.1532 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
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 v0.1530 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported.
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
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 v0.1528 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
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 v0.1526 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
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 v0.1523 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1523 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
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 v0.1521 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1521 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1520 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Intellectual disability syndromic and non-syndromic v0.1519 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
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 Marked gene: WDFY3 as ready
Intellectual disability syndromic and non-syndromic v0.1517 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
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 v0.1516 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
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 v0.1514 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1513 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly
Intellectual disability syndromic and non-syndromic v0.1512 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
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 Marked gene: SETD5 as ready
Intellectual disability syndromic and non-syndromic v0.1510 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
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 v0.1509 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
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 v0.1507 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1507 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 FZD3 Zornitza Stark reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1506 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1505 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Intellectual disability syndromic and non-syndromic v0.1504 H3F3A Zornitza Stark commented on gene: H3F3A
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1504 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MSH6 Zornitza Stark Gene: msh6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Intellectual disability syndromic and non-syndromic v0.1503 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Marked gene: MYMK as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYO7A Zornitza Stark Gene: myo7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC4 Zornitza Stark Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 ORC6 Zornitza Stark Gene: orc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SMG6 Zornitza Stark Marked gene: SMG6 as ready
Intellectual disability syndromic and non-syndromic v0.1503 SMG6 Zornitza Stark Gene: smg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Marked gene: SNRPA as ready
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Gene: snrpa has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark Marked gene: EDC3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 EDC3 Zornitza Stark Gene: edc3 has been classified as Red List (Low Evidence).
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 v0.1502 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Classified gene: PUS3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1502 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
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 v0.1500 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1500 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
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 v0.1498 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1498 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
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 v0.1496 RSRC1 Zornitza Stark Marked gene: RSRC1 as ready
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Classified gene: RSRC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1496 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
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 v0.1494 METTL5 Zornitza Stark Classified gene: METTL5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1494 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
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 Marked gene: CXorf56 as ready
Intellectual disability syndromic and non-syndromic v0.1492 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
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 v0.1491 USP27X Zornitza Stark Marked gene: USP27X as ready
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Classified gene: USP27X as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1491 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
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 v0.1489 KLHL15 Zornitza Stark Marked gene: KLHL15 as ready
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
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 v0.1487 ODC1 Zornitza Stark Marked gene: ODC1 as ready
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Classified gene: ODC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1487 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
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 v0.1485 RALA Zornitza Stark Marked gene: RALA as ready
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1485 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
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 v0.1483 LSS Zornitza Stark Phenotypes for gene: LSS were changed from Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275 to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; intellectual disability and alopecia
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1482 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
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 v0.1480 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1480 TANC2 Zornitza Stark Phenotypes for gene: TANC2 were changed from no OMIM number yet to no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1479 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
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 v0.1477 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1477 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
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 v0.1475 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1475 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1474 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1474 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Intellectual disability syndromic and non-syndromic v0.1473 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
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 v0.1471 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1471 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
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 v0.1470 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1470 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Intellectual disability syndromic and non-syndromic v0.1469 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
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 v0.1467 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1467 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
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 v0.1466 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Classified gene: NTRK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1466 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
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 v0.1464 GLS Zornitza Stark Marked gene: GLS as ready
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1464 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
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 v0.1462 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1462 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Intellectual disability syndromic and non-syndromic v0.1461 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1461 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1460 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM#617931 to Spinocerebellar ataxia 47, MIM#617931; intellectual disability; epilepsy
Intellectual disability syndromic and non-syndromic v0.1459 PUM1 Zornitza Stark Publications for gene: PUM1 were set to 29474920; 25768905
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Classified gene: PUM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Added comment: Comment on list classification: Another two families reported.
Intellectual disability syndromic and non-syndromic v0.1458 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1457 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.1456 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to
Intellectual disability syndromic and non-syndromic v0.1455 SHANK1 Zornitza Stark Classified gene: SHANK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1455 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1454 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1454 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
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 v0.1452 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1452 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
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 v0.1450 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1450 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1449 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
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 v0.1447 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Intellectual disability syndromic and non-syndromic v0.1446 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
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 Marked gene: CCDC88C as ready
Intellectual disability syndromic and non-syndromic v0.1444 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
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 v0.1443 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Intellectual disability syndromic and non-syndromic v0.1442 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Intellectual disability syndromic and non-syndromic v0.1441 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1441 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
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 v0.1440 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1440 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1439 COQ5 Zornitza Stark Publications for gene: COQ5 were set to
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 v0.1437 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1437 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
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 v0.1436 MN1 Zornitza Stark Marked gene: MN1 as ready
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Classified gene: MN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1436 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
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 v0.1434 EEF1B2 Zornitza Stark Marked gene: EEF1B2 as ready
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1434 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
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 v0.1432 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1432 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
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 v0.1430 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
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 v0.1429 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Classified gene: ATP1A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1429 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
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 v0.1427 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1427 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
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 Marked gene: SOST as ready
Intellectual disability syndromic and non-syndromic v0.1425 SOST Zornitza Stark Gene: sost has been classified as Red List (Low Evidence).
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 v0.1424 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1424 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
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 v0.1422 DSCAM Natasha Brown Marked gene: DSCAM as ready
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Added comment: Comment when marking as ready: Large cohort studies mean that individual phenotype data currently lacking in particular in relation to ID
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Gene: dscam has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1422 DSCAM Natasha Brown Phenotypes for gene: DSCAM were changed from to Autism; ID
Intellectual disability syndromic and non-syndromic v0.1421 DSCAM Natasha Brown Publications for gene: DSCAM were set to
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 v0.1419 DSCAM Natasha Brown Classified gene: DSCAM as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1419 DSCAM Natasha Brown Gene: dscam has been classified as Amber List (Moderate Evidence).
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 v0.1418 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1418 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
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 v0.1416 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1416 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
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 v0.1414 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark changed review comment from: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD
Sources: Research; to: Emerging evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1414 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1413 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
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 v0.1411 USP7 Natasha Brown Marked gene: USP7 as ready
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Classified gene: USP7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1411 USP7 Natasha Brown Gene: usp7 has been classified as Green List (High Evidence).
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 v0.1409 SEC31A Tiong Tan Marked gene: SEC31A as ready
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Classified gene: SEC31A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1409 SEC31A Tiong Tan Gene: sec31a has been classified as Amber List (Moderate Evidence).
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 v0.1407 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1407 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
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 Marked gene: POLD2 as ready
Intellectual disability syndromic and non-syndromic v0.1405 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
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 Marked gene: POLD1 as ready
Intellectual disability syndromic and non-syndromic v0.1404 POLD1 Zornitza Stark Gene: pold1 has been classified as Red List (Low Evidence).
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 v0.1403 ZNF292 Zornitza Stark Marked gene: ZNF292 as ready
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Added comment: Comment on phenotypes: no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1403 ZNF292 Zornitza Stark Phenotypes for gene: ZNF292 were changed from no OMIM number yet to Intellectual disability; autism; ADHD
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Added comment: Comment when marking as ready: Please note transcription error in review relating to another gene, ZNF292. 19 families reported with heterozygous variants in this gene and a neurodevelopmental phenotype.
Intellectual disability syndromic and non-syndromic v0.1402 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1402 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Marked gene: TUBB as ready
Intellectual disability syndromic and non-syndromic v0.1401 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
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 v0.1400 TUBB Zornitza Stark Publications for gene: TUBB were set to
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 v0.1398 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1398 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
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 v0.1396 TARS Zornitza Stark Marked gene: TARS as ready
Intellectual disability syndromic and non-syndromic v0.1396 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported with hypotrichosis simplex; only one family reported with ID.
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Gene: snrpe has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1396 SNRPE Zornitza Stark Publications for gene: SNRPE were set to
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals and functional data, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1395 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
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 v0.1393 POLR2A Sue White Marked gene: POLR2A as ready
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1393 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
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 v0.1391 GNAI1 Zornitza Stark Marked gene: GNAI1 as ready
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1391 GNAI1 Zornitza Stark Publications for gene: GNAI1 were set to
Intellectual disability syndromic and non-syndromic v0.1390 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from to Intellectual disability
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 v0.1388 NLGN1 Zornitza Stark Marked gene: NLGN1 as ready
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1388 NLGN1 Zornitza Stark Phenotypes for gene: NLGN1 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Added comment: Comment when marking as ready: Three families, upgraded to Green.
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Classified gene: NCAPD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1387 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Marked gene: MEPCE as ready
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1386 MEPCE Zornitza Stark Phenotypes for gene: MEPCE were changed from no OMIM number yet to Intellectual disability; seizures; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1385 LMAN2L Zornitza Stark Marked gene: LMAN2L as ready
Intellectual disability syndromic and non-syndromic v0.1385 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1385 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from no OMIM number yet to Intellectual disability; dysmorphic features; short stature; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with functional data, upgrade to Green.
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1384 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1383 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Intellectual disability syndromic and non-syndromic v0.1383 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Marked gene: FRY as ready
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1383 FRY Zornitza Stark Phenotypes for gene: FRY were changed from no OMIM number yet to Intellectual disability; no OMIM number yet
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Marked gene: FBXL3 as ready
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Added comment: Comment when marking as ready: Three families, all different variants, promote to green.
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1382 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Intellectual disability syndromic and non-syndromic v0.1379 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
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 Marked gene: ELMOD1 as ready
Intellectual disability syndromic and non-syndromic v0.1378 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
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 v0.1377 EEF1D Zornitza Stark Marked gene: EEF1D as ready
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1377 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
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 v0.1375 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1375 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
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 Marked gene: DTYMK as ready
Intellectual disability syndromic and non-syndromic v0.1373 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
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 Marked gene: DNAJA1 as ready
Intellectual disability syndromic and non-syndromic v0.1372 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
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 v0.1371 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1371 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
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 v0.1369 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1369 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
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 v0.1367 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Classified gene: CYFIP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1367 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
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 v0.1365 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1365 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
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 v0.1362 FBXL3 Chirag Patel Classified gene: FBXL3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1362 FBXL3 Chirag Patel Gene: fbxl3 has been classified as Amber List (Moderate Evidence).
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 Marked gene: CNTN6 as ready
Intellectual disability syndromic and non-syndromic v0.1360 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
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 v0.1359 FRY Chirag Patel Classified gene: FRY as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1359 FRY Chirag Patel Gene: fry has been classified as Amber List (Moderate Evidence).
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 Marked gene: CMAS as ready
Intellectual disability syndromic and non-syndromic v0.1357 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
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 v0.1356 GABRA5 Chirag Patel Marked gene: GABRA5 as ready
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Gene: gabra5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Classified gene: GABRA5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1356 GABRA5 Chirag Patel Gene: gabra5 has been classified as Green List (High Evidence).
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 v0.1353 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1353 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
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 v0.1351 GRIA2 Chirag Patel Marked gene: GRIA2 as ready
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Gene: gria2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Classified gene: GRIA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1351 GRIA2 Chirag Patel Gene: gria2 has been classified as Green List (High Evidence).
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 v0.1349 GTF2E2 Chirag Patel changed review comment from: 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; to: 2 unrelated non-photosensitive TTD families (3 affected) 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 v0.1349 GTF2E2 Chirag Patel Classified gene: GTF2E2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1349 GTF2E2 Chirag Patel Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
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 v0.1347 KDM3B Chirag Patel Marked gene: KDM3B as ready
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Gene: kdm3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Classified gene: KDM3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1347 KDM3B Chirag Patel Gene: kdm3b has been classified as Green List (High Evidence).
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 v0.1345 LMAN2L Chirag Patel Classified gene: LMAN2L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1345 LMAN2L Chirag Patel Gene: lman2l has been classified as Amber List (Moderate Evidence).
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 v0.1342 LSS Chirag Patel Marked gene: LSS as ready
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Gene: lss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Classified gene: LSS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1342 LSS Chirag Patel Gene: lss has been classified as Green List (High Evidence).
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 v0.1339 MAST1 Chirag Patel Marked gene: MAST1 as ready
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Gene: mast1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Classified gene: MAST1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1339 MAST1 Chirag Patel Gene: mast1 has been classified as Green List (High Evidence).
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 v0.1336 NCAPD2 Chirag Patel Classified gene: NCAPD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1336 NCAPD2 Chirag Patel Gene: ncapd2 has been classified as Amber List (Moderate Evidence).
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 v0.1334 NFASC Chirag Patel Marked gene: NFASC as ready
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Gene: nfasc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Classified gene: NFASC as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1334 NFASC Chirag Patel Gene: nfasc has been classified as Green List (High Evidence).
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 v0.1331 P4HTM Chirag Patel Marked gene: P4HTM as ready
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Gene: p4htm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Classified gene: P4HTM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1331 P4HTM Chirag Patel Gene: p4htm has been classified as Green List (High Evidence).
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 v0.1329 PAK1 Chirag Patel Marked gene: PAK1 as ready
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Gene: pak1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Classified gene: PAK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1329 PAK1 Chirag Patel Gene: pak1 has been classified as Green List (High Evidence).
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 v0.1327 PHF21A Chirag Patel Marked gene: PHF21A as ready
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Gene: phf21a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Classified gene: PHF21A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1327 PHF21A Chirag Patel Gene: phf21a has been classified as Green List (High Evidence).
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 v0.1325 PIBF1 Chirag Patel Marked gene: PIBF1 as ready
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Classified gene: PIBF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1325 PIBF1 Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence).
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 v0.1323 PIGB Chirag Patel Marked gene: PIGB as ready
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Gene: pigb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Classified gene: PIGB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1323 PIGB Chirag Patel Gene: pigb has been classified as Green List (High Evidence).
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 v0.1321 PIGU Chirag Patel Marked gene: PIGU as ready
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Gene: pigu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Classified gene: PIGU as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1321 PIGU Chirag Patel Gene: pigu has been classified as Green List (High Evidence).
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 v0.1319 PISD Chirag Patel Marked gene: PISD as ready
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Gene: pisd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed publications: PMID: 31263216, 30858161
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel edited their review of gene: PISD: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.1319 PISD Chirag Patel Publications for gene PISD were changed from PMID: 31263216; 30858161 to PMID: 31263216; 30858161
Intellectual disability syndromic and non-syndromic v0.1318 PISD Chirag Patel Classified gene: PISD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1318 PISD Chirag Patel Gene: pisd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1317 PISD Chirag Patel changed review comment from: 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; to: 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.

1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
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 v0.1316 POU3F3 Chirag Patel Marked gene: POU3F3 as ready
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Gene: pou3f3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Classified gene: POU3F3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1316 POU3F3 Chirag Patel Gene: pou3f3 has been classified as Green List (High Evidence).
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 v0.1314 PPP2CA Chirag Patel Classified gene: PPP2CA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1314 PPP2CA Chirag Patel Gene: ppp2ca has been classified as Green List (High Evidence).
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 v0.1312 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Intellectual disability syndromic and non-syndromic v0.1312 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Chirag Patel Classified gene: PUS7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1312 PUS7 Chirag Patel Gene: pus7 has been classified as Green List (High Evidence).
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 v0.1310 RNF113A Chirag Patel Classified gene: RNF113A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1310 RNF113A Chirag Patel Gene: rnf113a has been classified as Amber List (Moderate Evidence).
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 v0.1308 SCAMP5 Chirag Patel Classified gene: SCAMP5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1308 SCAMP5 Chirag Patel Gene: scamp5 has been classified as Amber List (Moderate Evidence).
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 v0.1306 SCAPER Chirag Patel Classified gene: SCAPER as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1306 SCAPER Chirag Patel Gene: scaper has been classified as Green List (High Evidence).
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 v0.1304 SMARCD1 Zornitza Stark Marked gene: SMARCD1 as ready
Intellectual disability syndromic and non-syndromic v0.1304 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1304 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 SEMA5A Zornitza Stark Marked gene: SEMA5A as ready
Intellectual disability syndromic and non-syndromic v0.1304 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1304 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
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 v0.1302 SEMA5A Chirag Patel Classified gene: SEMA5A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1302 SEMA5A Chirag Patel Gene: sema5a has been classified as Amber List (Moderate Evidence).
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 v0.1300 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1300 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1299 SMARCC2 Chirag Patel Classified gene: SMARCC2 as Green List (high evidence)
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 v0.1299 SMARCC2 Chirag Patel Gene: smarcc2 has been classified as Green List (High Evidence).
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 v0.1297 SMARCD1 Chirag Patel Classified gene: SMARCD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1297 SMARCD1 Chirag Patel Gene: smarcd1 has been classified as Green List (High Evidence).
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 v0.1295 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1295 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
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 edited their review of gene: SNRPE: Changed rating: RED
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 v0.1292 SOX4 Chirag Patel Classified gene: SOX4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1292 SOX4 Chirag Patel Gene: sox4 has been classified as Green List (High Evidence).
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 v0.1290 SVBP Chirag Patel Classified gene: SVBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1290 SVBP Chirag Patel Gene: svbp has been classified as Green List (High Evidence).
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 v0.1288 TANC2 Chirag Patel Classified gene: TANC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1288 TANC2 Chirag Patel Gene: tanc2 has been classified as Green List (High Evidence).
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 v0.1286 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1286 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
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 v0.1284 TARS Chirag Patel Classified gene: TARS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1284 TARS Chirag Patel Gene: tars has been classified as Amber List (Moderate Evidence).
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 v0.1282 TEMN3-AS1 Chirag Patel changed review comment from: 3 unrelated families, but no functional evidence.
Sources: Literature; to: 3 unrelated families with DD/ID as part of syndromic microphthalmia, but no functional evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel Classified gene: TEMN3-AS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1282 TEMN3-AS1 Chirag Patel Gene: temn3-as1 has been classified as Amber List (Moderate Evidence).
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 v0.1280 APC2 Zornitza Stark Marked gene: APC2 as ready
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1280 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
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 v0.1278 VAMP2 Chirag Patel Classified gene: VAMP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1278 VAMP2 Chirag Patel Gene: vamp2 has been classified as Green List (High Evidence).
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 v0.1276 ZMIZ1 Chirag Patel Classified gene: ZMIZ1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1276 ZMIZ1 Chirag Patel Gene: zmiz1 has been classified as Green List (High Evidence).
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 v0.1274 ZNF292 Chirag Patel Classified gene: ZNF292 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1274 ZNF292 Chirag Patel Gene: znf292 has been classified as Green List (High Evidence).
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 v0.1272 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1272 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
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 Marked gene: ADGRB3 as ready
Intellectual disability syndromic and non-syndromic v0.1270 ADGRB3 Zornitza Stark Gene: adgrb3 has been classified as Red List (Low Evidence).
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 v0.1269 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1269 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
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 v0.1267 SP7 Zornitza Stark Marked gene: SP7 as ready
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1267 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta, type XII; OMIM # 613849
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 SPEG Zornitza Stark Marked gene: SPEG as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPEG Zornitza Stark Gene: speg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPINK5 Zornitza Stark Gene: spink5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Intellectual disability syndromic and non-syndromic v0.1265 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Red List (Low Evidence).
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 v0.1264 ST7 Zornitza Stark Marked gene: ST7 as ready
Intellectual disability syndromic and non-syndromic v0.1264 ST7 Zornitza Stark Gene: st7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Intellectual disability syndromic and non-syndromic v0.1264 STAC3 Zornitza Stark Gene: stac3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Intellectual disability syndromic and non-syndromic v0.1264 STAT5B Zornitza Stark Gene: stat5b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STK3 Zornitza Stark Marked gene: STK3 as ready
Intellectual disability syndromic and non-syndromic v0.1264 STK3 Zornitza Stark Gene: stk3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1264 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw; OMIM #615596
Intellectual disability syndromic and non-syndromic v0.1263 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 23842455
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Added comment: Comment on list classification: Two further recent publications identified, bringing the total number of reported families to three.
Intellectual disability syndromic and non-syndromic v0.1262 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 STT3A Zornitza Stark Marked gene: STT3A as ready
Intellectual disability syndromic and non-syndromic v0.1261 STT3A Zornitza Stark Gene: stt3a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 STT3B Zornitza Stark Marked gene: STT3B as ready
Intellectual disability syndromic and non-syndromic v0.1261 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TAF8 Zornitza Stark Marked gene: TAF8 as ready
Intellectual disability syndromic and non-syndromic v0.1261 TAF8 Zornitza Stark Gene: taf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Intellectual disability syndromic and non-syndromic v0.1261 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
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 v0.1260 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TFG Zornitza Stark Marked gene: TFG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TFG Zornitza Stark Gene: tfg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Marked gene: TG as ready
Intellectual disability syndromic and non-syndromic v0.1260 TG Zornitza Stark Gene: tg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TIMM8A Zornitza Stark Gene: timm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TP63 Zornitza Stark Marked gene: TP63 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TP63 Zornitza Stark Gene: tp63 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 ERLIN2 Zornitza Stark Marked gene: ERLIN2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRAPPC6A Zornitza Stark Marked gene: TRAPPC6A as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRAPPC6A Zornitza Stark Gene: trappc6a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRHR Zornitza Stark Marked gene: TRHR as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRHR Zornitza Stark Gene: trhr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Intellectual disability syndromic and non-syndromic v0.1260 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Intellectual disability syndromic and non-syndromic v0.1260 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TTR Zornitza Stark Marked gene: TTR as ready
Intellectual disability syndromic and non-syndromic v0.1260 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 TWNK Zornitza Stark Marked gene: TWNK as ready
Intellectual disability syndromic and non-syndromic v0.1260 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Intellectual disability syndromic and non-syndromic v0.1260 UNC13D Zornitza Stark Gene: unc13d has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRB Zornitza Stark Gene: uqcrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Intellectual disability syndromic and non-syndromic v0.1260 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1260 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Intellectual disability syndromic and non-syndromic v0.1260 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 VANGL1 Zornitza Stark Marked gene: VANGL1 as ready
Intellectual disability syndromic and non-syndromic v0.1259 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Intellectual disability syndromic and non-syndromic v0.1259 VPS45 Zornitza Stark Gene: vps45 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WASHC4 Zornitza Stark Marked gene: WASHC4 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WASHC4 Zornitza Stark Gene: washc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WASHC5 Zornitza Stark Marked gene: WASHC5 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WASHC5 Zornitza Stark Gene: washc5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR11 Zornitza Stark Marked gene: WDR11 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR13 Zornitza Stark Marked gene: WDR13 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR13 Zornitza Stark Gene: wdr13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR19 Zornitza Stark Gene: wdr19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Intellectual disability syndromic and non-syndromic v0.1259 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZCCHC12 Zornitza Stark Marked gene: ZCCHC12 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZCCHC12 Zornitza Stark Gene: zcchc12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZDHHC15 Zornitza Stark Marked gene: ZDHHC15 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Marked gene: ZMYM3 as ready
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Gene: zmym3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1259 ZMYM3 Zornitza Stark Publications for gene: ZMYM3 were set to
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Marked gene: ZNF41 as ready
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Gene: znf41 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1258 ZNF41 Zornitza Stark Publications for gene: ZNF41 were set to
Intellectual disability syndromic and non-syndromic v0.1257 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF507 Zornitza Stark Marked gene: ZNF507 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF507 Zornitza Stark Gene: znf507 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Marked gene: ZNF674 as ready
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Gene: znf674 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1257 ZNF674 Zornitza Stark Publications for gene: ZNF674 were set to
Intellectual disability syndromic and non-syndromic v0.1256 ZNF804A Zornitza Stark Marked gene: ZNF804A as ready
Intellectual disability syndromic and non-syndromic v0.1256 ZNF804A Zornitza Stark Gene: znf804a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 ZNHIT6 Zornitza Stark Marked gene: ZNHIT6 as ready
Intellectual disability syndromic and non-syndromic v0.1256 ZNHIT6 Zornitza Stark Gene: znhit6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Marked gene: MEGF8 as ready
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Gene: megf8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1256 MEGF8 Zornitza Stark Publications for gene: MEGF8 were set to
Intellectual disability syndromic and non-syndromic v0.1255 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Intellectual disability syndromic and non-syndromic v0.1255 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 MIR17HG Zornitza Stark Marked gene: MIR17HG as ready
Intellectual disability syndromic and non-syndromic v0.1255 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 WASF1 Zornitza Stark Marked gene: WASF1 as ready
Intellectual disability syndromic and non-syndromic v0.1255 WASF1 Zornitza Stark Gene: wasf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Intellectual disability syndromic and non-syndromic v0.1255 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 RNF135 Zornitza Stark Marked gene: RNF135 as ready
Intellectual disability syndromic and non-syndromic v0.1255 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
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 v0.1255 TTI1 Zornitza Stark Marked gene: TTI1 as ready
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Gene: tti1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1255 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from intellectual disability; seizures; cerebellar atrophy to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.1254 TTI1 Zornitza Stark Classified gene: TTI1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1254 TTI1 Zornitza Stark Gene: tti1 has been classified as Amber List (Moderate Evidence).
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 edited their review of gene: SLC25A4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Chirag Patel edited their review of gene: SLC25A4: Changed rating: AMBER
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 Marked gene: SLC25A4 as ready
Intellectual disability syndromic and non-syndromic v0.1252 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
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 v0.1250 SLC25A4 Zornitza Stark Classified gene: SLC25A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1250 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
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 v0.1249 SLC29A3 Chirag Patel Classified gene: SLC29A3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1249 SLC29A3 Chirag Patel Gene: slc29a3 has been classified as Red List (Low Evidence).
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 v0.1247 SLC2A10 Chirag Patel Classified gene: SLC2A10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1247 SLC2A10 Chirag Patel Gene: slc2a10 has been classified as Red List (Low Evidence).
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 v0.1245 SLC35A3 Chirag Patel Classified gene: SLC35A3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1245 SLC35A3 Chirag Patel Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
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 v0.1243 SLC39A4 Chirag Patel Classified gene: SLC39A4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1243 SLC39A4 Chirag Patel Gene: slc39a4 has been classified as Red List (Low Evidence).
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 v0.1241 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1241 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM#212138
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 v0.1239 SLC25A20 Zornitza Stark Classified gene: SLC25A20 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1239 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1238 SLC5A2 Chirag Patel Classified gene: SLC5A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1238 SLC5A2 Chirag Patel Gene: slc5a2 has been classified as Red List (Low Evidence).
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 v0.1236 SLC9A7 Chirag Patel Classified gene: SLC9A7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1236 SLC9A7 Chirag Patel Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
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 v0.1234 SMCHD1 Chirag Patel Classified gene: SMCHD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1234 SMCHD1 Chirag Patel Gene: smchd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1233 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
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 v0.1232 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
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 v0.1230 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1230 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
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 v0.1229 SMG6 Chirag Patel Classified gene: SMG6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1229 SMG6 Chirag Patel Gene: smg6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1228 SMG6 Chirag Patel reviewed gene: SMG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1228 SNAP25 Chirag Patel Classified gene: SNAP25 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1228 SNAP25 Chirag Patel Gene: snap25 has been classified as Green List (High Evidence).
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 v0.1226 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1226 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM#605814
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 v0.1224 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1224 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
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 v0.1223 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1223 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM#212140
Intellectual disability syndromic and non-syndromic v0.1222 SLC22A5 Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1222 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1221 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM#212140; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Classified gene: SNRPA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Gene: snrpa has been classified as Red List (Low Evidence).
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 v0.1219 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1219 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM#213600
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 v0.1217 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1217 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
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 v0.1216 SNRPN Chirag Patel Classified gene: SNRPN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1216 SNRPN Chirag Patel Gene: snrpn has been classified as Amber List (Moderate Evidence).
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 v0.1214 SLC1A3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1214 SLC1A3 Zornitza Stark commented on gene: SLC1A3: ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.1214 SOST Chirag Patel Classified gene: SOST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1214 SOST Chirag Patel Gene: sost has been classified as Red List (Low Evidence).
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 v0.1212 SP7 Chirag Patel Classified gene: SP7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1212 SP7 Chirag Patel Gene: sp7 has been classified as Red List (Low Evidence).
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 v0.1211 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1211 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM#612656
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 v0.1209 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1209 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
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 edited their review of gene: SPART: Changed publications: PMID: 26003402, 28679690, 27112432, 20437587, 12134148, 18413476, 31314595, 28875386
Intellectual disability syndromic and non-syndromic v0.1207 SPART Chirag Patel changed review comment from: > 5 families reported, with ID as part of phenotype.; to: Numerous families reported, with ID as part of phenotype.
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 v0.1207 SPEG Chirag Patel Classified gene: SPEG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1207 SPEG Chirag Patel Gene: speg has been classified as Red List (Low Evidence).
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 v0.1205 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1205 SLC1A1 Zornitza Stark Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria, MIM#222730
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 v0.1203 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1203 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
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 v0.1201 SLC19A2 Zornitza Stark Classified gene: SLC19A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1201 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Red List (Low Evidence).
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 v0.1200 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1200 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM#601678
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 v0.1198 SLC12A1 Zornitza Stark Classified gene: SLC12A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1198 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Red List (Low Evidence).
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 v0.1197 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1197 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from to Charcot-Marie-Tooth disease, type 4C, MIM#601596
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 v0.1195 SH3TC2 Zornitza Stark Classified gene: SH3TC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1195 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Red List (Low Evidence).
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 v0.1193 SPINK5 Chirag Patel Classified gene: SPINK5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1193 SPINK5 Chirag Patel Gene: spink5 has been classified as Red List (Low Evidence).
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 v0.1191 SPTLC1 Chirag Patel Classified gene: SPTLC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1191 SPTLC1 Chirag Patel Gene: sptlc1 has been classified as Red List (Low Evidence).
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 v0.1188 ST7 Chirag Patel Classified gene: ST7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1188 ST7 Chirag Patel Gene: st7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1187 ST7 Chirag Patel reviewed gene: ST7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1187 STAC3 Chirag Patel Classified gene: STAC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1187 STAC3 Chirag Patel Gene: stac3 has been classified as Red List (Low Evidence).
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 v0.1185 STAT5B Chirag Patel Classified gene: STAT5B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1185 STAT5B Chirag Patel Gene: stat5b has been classified as Red List (Low Evidence).
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 v0.1183 STAT5B Chirag Patel reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1183 STK3 Chirag Patel Classified gene: STK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1183 STK3 Chirag Patel Gene: stk3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1182 STK3 Chirag Patel reviewed gene: STK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1182 STT3A Chirag Patel Classified gene: STT3A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1182 STT3A Chirag Patel Gene: stt3a has been classified as Red List (Low Evidence).
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 v0.1180 STT3B Chirag Patel Classified gene: STT3B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1180 STT3B Chirag Patel Gene: stt3b has been classified as Red List (Low Evidence).
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 v0.1176 SUZ12 Chirag Patel Classified gene: SUZ12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1176 SUZ12 Chirag Patel Gene: suz12 has been classified as Green List (High Evidence).
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 v0.1174 SYT1 Chirag Patel Classified gene: SYT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1174 SYT1 Chirag Patel Gene: syt1 has been classified as Green List (High Evidence).
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 Marked gene: SGCA as ready
Intellectual disability syndromic and non-syndromic v0.1172 SGCA Zornitza Stark Gene: sgca has been classified as Red List (Low Evidence).
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 v0.1171 SGCA Zornitza Stark Classified gene: SGCA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1171 SGCA Zornitza Stark Gene: sgca has been classified as Red List (Low Evidence).
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 v0.1170 SFXN4 Zornitza Stark Marked gene: SFXN4 as ready
Intellectual disability syndromic and non-syndromic v0.1170 SFXN4 Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1170 SFXN4 Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
Intellectual disability syndromic and non-syndromic v0.1169 SFXN4 Zornitza Stark Publications for gene: SFXN4 were set to
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 v0.1167 SF3B4 Zornitza Stark Marked gene: SF3B4 as ready
Intellectual disability syndromic and non-syndromic v0.1167 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1167 SF3B4 Zornitza Stark Phenotypes for gene: SF3B4 were changed from to Acrofacial dysostosis 1, Nager type, MIM#154400
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 v0.1165 SF3B4 Zornitza Stark Classified gene: SF3B4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1165 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Red List (Low Evidence).
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 v0.1164 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Intellectual disability syndromic and non-syndromic v0.1164 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1164 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM#613811
Intellectual disability syndromic and non-syndromic v0.1163 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
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 v0.1161 SELENON Zornitza Stark Marked gene: SELENON as ready
Intellectual disability syndromic and non-syndromic v0.1161 SELENON Zornitza Stark Gene: selenon has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1161 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1, MIM# 602771; Myopathy, congenital, with fiber-type disproportion, MIM# 255310
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 v0.1159 SELENON Zornitza Stark Classified gene: SELENON as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1159 SELENON Zornitza Stark Gene: selenon has been classified as Red List (Low Evidence).
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 Marked gene: SELENOI as ready
Intellectual disability syndromic and non-syndromic v0.1158 SELENOI Zornitza Stark Gene: selenoi has been classified as Red List (Low Evidence).
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 v0.1157 TACO1 Chirag Patel Classified gene: TACO1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1157 TACO1 Chirag Patel Gene: taco1 has been classified as Amber List (Moderate Evidence).
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 v0.1155 TAF8 Chirag Patel Classified gene: TAF8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1155 TAF8 Chirag Patel Gene: taf8 has been classified as Red List (Low Evidence).
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 Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1153 TBC1D20 Chirag Patel edited their review of gene: TBC1D20: Added comment: Liegel et al. (2013) analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients diagnosed with Warburg Micro syndrome from 5 families of different ethnic origins. Evaluation of human fibroblasts deficient in TBC1D20 function identified aberrant lipid droplet formation.; Changed rating: GREEN
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 v0.1152 TCTN3 Chirag Patel Classified gene: TCTN3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1152 TCTN3 Chirag Patel Gene: tctn3 has been classified as Amber List (Moderate Evidence).
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 v0.1150 Zornitza Stark removed gene:SDHD from the panel
Intellectual disability syndromic and non-syndromic v0.1149 TDGF1 Chirag Patel Classified gene: TDGF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1149 TDGF1 Chirag Patel Gene: tdgf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1148 TDGF1 Chirag Patel Source Genetic Health Queensland was removed from TDGF1.
Source Expert list was added to TDGF1.
Publications for gene TDGF1 were changed from PMID: 12073012 to PMID: 12073012
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 TDGF1 Chirag Patel Deleted their comment
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 v0.1147 TDGF1 Chirag Patel reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1147 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from to Epileptic encephalopathy, early infantile, 52, MIM#617350
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 v0.1143 TFAP2A Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1143 TFAP2A Chirag Patel Classified gene: TFAP2A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1143 TFAP2A Chirag Patel Gene: tfap2a has been classified as Red List (Low Evidence).
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 commented on gene: TFAP2A: no ID as part of phenotype.
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 v0.1141 TFAP2B Chirag Patel Classified gene: TFAP2B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1141 TFAP2B Chirag Patel Gene: tfap2b has been classified as Red List (Low Evidence).
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 v0.1139 TFG Chirag Patel Classified gene: TFG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1139 TFG Chirag Patel Gene: tfg has been classified as Red List (Low Evidence).
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 v0.1137 TG Chirag Patel Classified gene: TG as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1137 TG Chirag Patel Gene: tg has been classified as Red List (Low Evidence).
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 v0.1135 TGFBR1 Chirag Patel Classified gene: TGFBR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1135 TGFBR1 Chirag Patel Gene: tgfbr1 has been classified as Red List (Low Evidence).
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 v0.1133 TGFBR2 Chirag Patel Classified gene: TGFBR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1133 TGFBR2 Chirag Patel Gene: tgfbr2 has been classified as Red List (Low Evidence).
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 v0.1131 THAP1 Chirag Patel Classified gene: THAP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1131 THAP1 Chirag Patel Gene: thap1 has been classified as Red List (Low Evidence).
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 v0.1129 TIMM8A Chirag Patel Classified gene: TIMM8A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1129 TIMM8A Chirag Patel Gene: timm8a has been classified as Red List (Low Evidence).
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 v0.1126 TNRC6B Chirag Patel Classified gene: TNRC6B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1126 TNRC6B Chirag Patel Gene: tnrc6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Gene: scn11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1125 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from to Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548
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 v0.1123 SCN11A Zornitza Stark Classified gene: SCN11A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1123 SCN11A Zornitza Stark Gene: scn11a has been classified as Red List (Low Evidence).
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 v0.1122 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Intellectual disability syndromic and non-syndromic v0.1122 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1122 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284
Intellectual disability syndromic and non-syndromic v0.1121 SBF1 Zornitza Stark Publications for gene: SBF1 were set to
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 v0.1119 SBDS Zornitza Stark Marked gene: SBDS as ready
Intellectual disability syndromic and non-syndromic v0.1119 SBDS Zornitza Stark Gene: sbds has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1119 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM#260400
Intellectual disability syndromic and non-syndromic v0.1118 SBDS Zornitza Stark Publications for gene: SBDS were set to
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 v0.1116 SBDS Zornitza Stark Classified gene: SBDS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1116 SBDS Zornitza Stark Gene: sbds has been classified as Red List (Low Evidence).
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 v0.1115 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1115 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1115 SARS2 Zornitza Stark Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Intellectual disability syndromic and non-syndromic v0.1114 SARS2 Zornitza Stark Publications for gene: SARS2 were set to
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 v0.1112 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Intellectual disability syndromic and non-syndromic v0.1112 SALL1 Zornitza Stark Gene: sall1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1112 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480
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 v0.1110 SALL1 Zornitza Stark Classified gene: SALL1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1110 SALL1 Zornitza Stark Gene: sall1 has been classified as Red List (Low Evidence).
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 Marked gene: RUBCN as ready
Intellectual disability syndromic and non-syndromic v0.1109 RUBCN Zornitza Stark Gene: rubcn has been classified as Red List (Low Evidence).
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 v0.1108 RUBCN Zornitza Stark Publications for gene: RUBCN were set to
Intellectual disability syndromic and non-syndromic v0.1107 RUBCN Zornitza Stark Classified gene: RUBCN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1107 RUBCN Zornitza Stark Gene: rubcn has been classified as Red List (Low Evidence).
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 v0.1106 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Intellectual disability syndromic and non-syndromic v0.1105 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
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 v0.1103 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Intellectual disability syndromic and non-syndromic v0.1103 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1103 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164
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 v0.1101 RPS28 Zornitza Stark Classified gene: RPS28 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1101 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
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 v0.1100 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Intellectual disability syndromic and non-syndromic v0.1100 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1100 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM#105650
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 v0.1098 RPS19 Zornitza Stark Classified gene: RPS19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1098 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
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 v0.1097 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Intellectual disability syndromic and non-syndromic v0.1097 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1097 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM#612562
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 v0.1095 RPL11 Zornitza Stark Classified gene: RPL11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1095 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
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 v0.1094 RORA Zornitza Stark Marked gene: RORA as ready
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Classified gene: RORA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1094 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
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 v0.1092 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Intellectual disability syndromic and non-syndromic v0.1092 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1092 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651
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 v0.1090 RMRP Zornitza Stark Marked gene: RMRP as ready
Intellectual disability syndromic and non-syndromic v0.1090 RMRP Zornitza Stark Gene: rmrp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1090 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from to Anauxetic dysplasia 1, MIM#607095
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 v0.1088 RMRP Zornitza Stark Classified gene: RMRP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1088 RMRP Zornitza Stark Gene: rmrp has been classified as Amber List (Moderate Evidence).
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 v0.1087 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Intellectual disability syndromic and non-syndromic v0.1087 RIN2 Zornitza Stark Gene: rin2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1087 RIN2 Zornitza Stark Phenotypes for gene: RIN2 were changed from to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075
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 v0.1085 RIN2 Zornitza Stark Classified gene: RIN2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1085 RIN2 Zornitza Stark Gene: rin2 has been classified as Red List (Low Evidence).
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 v0.1084 RHOBTB2 Zornitza Stark Marked gene: RHOBTB2 as ready
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Classified gene: RHOBTB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1084 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
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 v0.1082 RFX6 Zornitza Stark Marked gene: RFX6 as ready
Intellectual disability syndromic and non-syndromic v0.1082 RFX6 Zornitza Stark Gene: rfx6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1082 RFX6 Zornitza Stark Phenotypes for gene: RFX6 were changed from to Mitchell-Riley syndrome, MIM#615710
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 v0.1080 RFX6 Zornitza Stark Classified gene: RFX6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1080 RFX6 Zornitza Stark Gene: rfx6 has been classified as Red List (Low Evidence).
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 v0.1079 RET Zornitza Stark Marked gene: RET as ready
Intellectual disability syndromic and non-syndromic v0.1079 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1079 RET Zornitza Stark Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880; Medullary thyroid carcinoma, MIM#155240; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300
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 v0.1077 RET Zornitza Stark Classified gene: RET as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1077 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
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 v0.1076 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM#218600; RAPADILINO syndrome, MIM#266280; Rothmund-Thomson syndrome, type 2,MIM#268400
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 v0.1074 RECQL4 Zornitza Stark Classified gene: RECQL4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1074 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
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 v0.1073 RBPJ Zornitza Stark Marked gene: RBPJ as ready
Intellectual disability syndromic and non-syndromic v0.1073 RBPJ Zornitza Stark Gene: rbpj has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1073 RBPJ Zornitza Stark Phenotypes for gene: RBPJ were changed from to Adams-Oliver syndrome 3, MIM#614814
Intellectual disability syndromic and non-syndromic v0.1072 RBPJ Zornitza Stark Publications for gene: RBPJ were set to
Intellectual disability syndromic and non-syndromic v0.1071 RBPJ Zornitza Stark Classified gene: RBPJ as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1071 RBPJ Zornitza Stark Gene: rbpj has been classified as Red List (Low Evidence).
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 v0.1070 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Intellectual disability syndromic and non-syndromic v0.1070 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1070 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM#274000
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 v0.1068 RBM8A Zornitza Stark Classified gene: RBM8A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1068 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
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 v0.1067 TMEM231 Chirag Patel Classified gene: TMEM231 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1067 TMEM231 Chirag Patel Gene: tmem231 has been classified as Amber List (Moderate Evidence).
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 v0.1064 TP63 Chirag Patel Classified gene: TP63 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1064 TP63 Chirag Patel Gene: tp63 has been classified as Red List (Low Evidence).
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 v0.1062 TRAF7 Chirag Patel Classified gene: TRAF7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1062 TRAF7 Chirag Patel Gene: traf7 has been classified as Green List (High Evidence).
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 v0.1059 TRAPPC6A Chirag Patel Classified gene: TRAPPC6A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1059 TRAPPC6A Chirag Patel Gene: trappc6a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1058 TRAPPC6A Chirag Patel reviewed gene: TRAPPC6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Marked gene: RBM28 as ready
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Gene: rbm28 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1058 RBM28 Zornitza Stark Phenotypes for gene: RBM28 were changed from to Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079
Intellectual disability syndromic and non-syndromic v0.1057 RBM28 Zornitza Stark Publications for gene: RBM28 were set to
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 v0.1055 RBM28 Zornitza Stark Classified gene: RBM28 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1055 RBM28 Zornitza Stark Gene: rbm28 has been classified as Red List (Low Evidence).
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 v0.1054 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Intellectual disability syndromic and non-syndromic v0.1054 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1054 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326
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 v0.1052 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1052 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
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 v0.1051 RANBP2 Zornitza Stark Marked gene: RANBP2 as ready
Intellectual disability syndromic and non-syndromic v0.1051 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1051 RANBP2 Zornitza Stark Phenotypes for gene: RANBP2 were changed from to Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033
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 v0.1049 RANBP2 Zornitza Stark Classified gene: RANBP2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1049 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Red List (Low Evidence).
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 Marked gene: RAC3 as ready
Intellectual disability syndromic and non-syndromic v0.1048 RAC3 Zornitza Stark Gene: rac3 has been classified as Green List (High Evidence).
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 v0.1047 RAC3 Zornitza Stark Publications for gene: RAC3 were set to
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 v0.1045 RAB40AL Zornitza Stark Marked gene: RAB40AL as ready
Intellectual disability syndromic and non-syndromic v0.1045 RAB40AL Zornitza Stark Gene: rab40al has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1045 RAB40AL Zornitza Stark Phenotypes for gene: RAB40AL were changed from to MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
Intellectual disability syndromic and non-syndromic v0.1044 RAB40AL Zornitza Stark Publications for gene: RAB40AL were set to
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 v0.1042 RAB40AL Zornitza Stark Classified gene: RAB40AL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1042 RAB40AL Zornitza Stark Gene: rab40al has been classified as Red List (Low Evidence).
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 v0.1041 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Intellectual disability syndromic and non-syndromic v0.1041 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1041 RAB27A Zornitza Stark Phenotypes for gene: RAB27A were changed from to Griscelli syndrome, type 2, MIM#607624
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 v0.1039 RAB27A Zornitza Stark Classified gene: RAB27A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1039 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
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 v0.1038 PYGL Zornitza Stark Marked gene: PYGL as ready
Intellectual disability syndromic and non-syndromic v0.1038 PYGL Zornitza Stark Gene: pygl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1038 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM#232700
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 v0.1036 PYGL Zornitza Stark Classified gene: PYGL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1036 PYGL Zornitza Stark Gene: pygl has been classified as Red List (Low Evidence).
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 v0.1035 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Intellectual disability syndromic and non-syndromic v0.1035 PUM1 Zornitza Stark Gene: pum1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1035 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM#617931
Intellectual disability syndromic and non-syndromic v0.1034 PUM1 Zornitza Stark Publications for gene: PUM1 were set to
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 v0.1032 PUM1 Zornitza Stark Classified gene: PUM1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1032 PUM1 Zornitza Stark Gene: pum1 has been classified as Amber List (Moderate Evidence).
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 v0.1031 PSAP Zornitza Stark Marked gene: PSAP as ready
Intellectual disability syndromic and non-syndromic v0.1031 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1031 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
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 v0.1029 PRX Zornitza Stark Marked gene: PRX as ready
Intellectual disability syndromic and non-syndromic v0.1029 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1029 PRX Zornitza Stark Phenotypes for gene: PRX were changed from to Charcot-Marie-Tooth disease, type 4F, MIM#614895
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 v0.1027 PRX Zornitza Stark Classified gene: PRX as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1027 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
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 v0.1026 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Intellectual disability syndromic and non-syndromic v0.1026 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1026 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM#202650
Intellectual disability syndromic and non-syndromic v0.1025 PRRX1 Zornitza Stark Classified gene: PRRX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1025 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1024 PRRX1 Zornitza Stark reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agnathia-otocephaly complex, MIM#202650; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1024 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Intellectual disability syndromic and non-syndromic v0.1024 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
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 v0.1023 PRR12 Zornitza Stark Classified gene: PRR12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1023 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
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 v0.1021 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Intellectual disability syndromic and non-syndromic v0.1021 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1021 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM#612067
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 v0.1019 PRKRA Zornitza Stark Classified gene: PRKRA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1019 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
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 v0.1018 PRKN Zornitza Stark Marked gene: PRKN as ready
Intellectual disability syndromic and non-syndromic v0.1018 PRKN Zornitza Stark Gene: prkn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1018 PRKN Zornitza Stark Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2, MIM#600116
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 v0.1016 PRKN Zornitza Stark Classified gene: PRKN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1016 PRKN Zornitza Stark Gene: prkn has been classified as Red List (Low Evidence).
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 Marked gene: PRKDC as ready
Intellectual disability syndromic and non-syndromic v0.1015 PRKDC Zornitza Stark Gene: prkdc has been classified as Red List (Low Evidence).
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 v0.1014 PRKDC Zornitza Stark Publications for gene: PRKDC were set to
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 v0.1012 PRKDC Zornitza Stark Classified gene: PRKDC as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1012 PRKDC Zornitza Stark Gene: prkdc has been classified as Red List (Low Evidence).
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 v0.1011 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM#101800
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 v0.1009 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Intellectual disability syndromic and non-syndromic v0.1009 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1009 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM#612437
Intellectual disability syndromic and non-syndromic v0.1008 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1008 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1007 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM#612437; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1007 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Intellectual disability syndromic and non-syndromic v0.1007 PRF1 Zornitza Stark Gene: prf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1007 PRF1 Zornitza Stark Phenotypes for gene: PRF1 were changed from to Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
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 v0.1005 PRF1 Zornitza Stark Classified gene: PRF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1005 PRF1 Zornitza Stark Gene: prf1 has been classified as Red List (Low Evidence).
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 v0.1004 PREPL Zornitza Stark Marked gene: PREPL as ready
Intellectual disability syndromic and non-syndromic v0.1004 PREPL Zornitza Stark Gene: prepl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1004 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22, MIM#616224
Intellectual disability syndromic and non-syndromic v0.1003 PREPL Zornitza Stark Publications for gene: PREPL were set to
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 v0.1001 PREPL Zornitza Stark Classified gene: PREPL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1001 PREPL Zornitza Stark Gene: prepl has been classified as Red List (Low Evidence).
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 v0.1000 PRDM8 Zornitza Stark Marked gene: PRDM8 as ready
Intellectual disability syndromic and non-syndromic v0.1000 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1000 PRDM8 Zornitza Stark Phenotypes for gene: PRDM8 were changed from to Epilepsy, progressive myoclonic, 10, MIM#616640
Intellectual disability syndromic and non-syndromic v0.999 PRDM8 Zornitza Stark Publications for gene: PRDM8 were set to
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 v0.997 PRDM8 Zornitza Stark Classified gene: PRDM8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.997 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
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 v0.996 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.996 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
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 v0.994 PPOX Zornitza Stark Marked gene: PPOX as ready
Intellectual disability syndromic and non-syndromic v0.994 PPOX Zornitza Stark Gene: ppox has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.994 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from to Porphyria variegata, MIM#176200
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 v0.992 PPOX Zornitza Stark Classified gene: PPOX as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.992 PPOX Zornitza Stark Gene: ppox has been classified as Red List (Low Evidence).
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 v0.991 PPM1K Zornitza Stark Marked gene: PPM1K as ready
Intellectual disability syndromic and non-syndromic v0.991 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.991 PPM1K Zornitza Stark Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135
Intellectual disability syndromic and non-syndromic v0.990 PPM1K Zornitza Stark Publications for gene: PPM1K were set to
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 v0.988 PPM1K Zornitza Stark Classified gene: PPM1K as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.988 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
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 v0.987 POP1 Zornitza Stark Marked gene: POP1 as ready
Intellectual disability syndromic and non-syndromic v0.987 POP1 Zornitza Stark Gene: pop1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.987 POP1 Zornitza Stark Phenotypes for gene: POP1 were changed from to Anauxetic dysplasia 2, MIM#617396
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 v0.985 POP1 Zornitza Stark Classified gene: POP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.985 POP1 Zornitza Stark Gene: pop1 has been classified as Red List (Low Evidence).
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 v0.984 PON3 Zornitza Stark Marked gene: PON3 as ready
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Gene: pon3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Classified gene: PON3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.984 PON3 Zornitza Stark Gene: pon3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.983 PON3 Zornitza Stark reviewed gene: PON3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark commented on gene: POMK: ID is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Marked gene: POMK as ready
Intellectual disability syndromic and non-syndromic v0.983 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
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 v0.981 POC1A Zornitza Stark Marked gene: POC1A as ready
Intellectual disability syndromic and non-syndromic v0.981 POC1A Zornitza Stark Gene: poc1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.981 POC1A Zornitza Stark Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
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 v0.979 POC1A Zornitza Stark Classified gene: POC1A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.979 POC1A Zornitza Stark Gene: poc1a has been classified as Red List (Low Evidence).
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 v0.978 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Intellectual disability syndromic and non-syndromic v0.978 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.978 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932
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 v0.976 PNP Zornitza Stark Marked gene: PNP as ready
Intellectual disability syndromic and non-syndromic v0.976 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.976 PNP Zornitza Stark Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179
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 v0.974 PLOD3 Zornitza Stark Publications for gene: PLOD3 were set to 18834968; 31129566
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready