PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
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
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Two other reports identified, one of connective tissue/EB phenotype and the other in a large study reporting multiple emerging genes in consanguineous families
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.973 PLOD3 Zornitza Stark Phenotypes for gene: PLOD3 were changed from to Lysyl hydroxylase 3 deficiency, MIM#612394
Intellectual disability syndromic and non-syndromic v0.972 PLOD3 Zornitza Stark Publications for gene: PLOD3 were set to
Intellectual disability syndromic and non-syndromic v0.971 PLOD3 Zornitza Stark Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.970 PLOD3 Zornitza Stark Classified gene: PLOD3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.970 PLOD3 Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.969 PLOD3 Zornitza Stark reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834968, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Marked gene: PIP5K1B as ready
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Gene: pip5k1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Classified gene: PIP5K1B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.969 PIP5K1B Zornitza Stark Gene: pip5k1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.968 PIP5K1B Zornitza Stark reviewed gene: PIP5K1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.968 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Intellectual disability syndromic and non-syndromic v0.968 PINK1 Zornitza Stark Gene: pink1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.968 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset, MIM#605909
Intellectual disability syndromic and non-syndromic v0.967 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.966 PINK1 Zornitza Stark Classified gene: PINK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.966 PINK1 Zornitza Stark Gene: pink1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.965 PINK1 Zornitza Stark reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.965 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Intellectual disability syndromic and non-syndromic v0.965 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.965 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM#269880
Intellectual disability syndromic and non-syndromic v0.964 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.963 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.962 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.962 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.961 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.961 PHKG2 Zornitza Stark Classified gene: PHKG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.961 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.960 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Intellectual disability syndromic and non-syndromic v0.960 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.960 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM#613027
Intellectual disability syndromic and non-syndromic v0.959 PHKG2 Zornitza Stark Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.958 PHKG2 Zornitza Stark Classified gene: PHKG2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.958 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.957 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IXc, MIM#613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.957 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Intellectual disability syndromic and non-syndromic v0.957 PHKA2 Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.957 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1, MIM#306000
Intellectual disability syndromic and non-syndromic v0.956 PHKA2 Zornitza Stark Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.955 PHKA2 Zornitza Stark Classified gene: PHKA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.955 PHKA2 Zornitza Stark Gene: phka2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.954 PHKA2 Zornitza Stark reviewed gene: PHKA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease, type IXa1, MIM#306000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Marked gene: PHIP as ready
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Classified gene: PHIP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.954 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.953 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 29209020; 27900362; 23033978
Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991
Review for gene: PHIP was set to GREEN
Added comment: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Marked gene: PHC1 as ready
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.952 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Intellectual disability syndromic and non-syndromic v0.951 PHC1 Zornitza Stark Publications for gene: PHC1 were set to
Intellectual disability syndromic and non-syndromic v0.950 PHC1 Zornitza Stark Mode of inheritance for gene: PHC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.949 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.949 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.948 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782
Intellectual disability syndromic and non-syndromic v0.947 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Intellectual disability syndromic and non-syndromic v0.946 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDHB Zornitza Stark Marked gene: PDHB as ready
Intellectual disability syndromic and non-syndromic v0.945 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.945 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
Intellectual disability syndromic and non-syndromic v0.944 PDHB Zornitza Stark Publications for gene: PDHB were set to
Intellectual disability syndromic and non-syndromic v0.943 PDHB Zornitza Stark reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138885, 26014431; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM#614111; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Gene: pdgfb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.943 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, MIM#615483
Intellectual disability syndromic and non-syndromic v0.942 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.941 PDGFB Zornitza Stark Classified gene: PDGFB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.941 PDGFB Zornitza Stark Gene: pdgfb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.940 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.940 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Intellectual disability syndromic and non-syndromic v0.940 PDE6D Zornitza Stark Gene: pde6d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.940 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, MIM#615665
Intellectual disability syndromic and non-syndromic v0.939 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Intellectual disability syndromic and non-syndromic v0.938 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.937 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24166846, 30423442; Phenotypes: Joubert syndrome 22, MIM#615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.937 PDE11A Zornitza Stark Marked gene: PDE11A as ready
Intellectual disability syndromic and non-syndromic v0.937 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.937 PDE11A Zornitza Stark Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2, MIM#610475
Intellectual disability syndromic and non-syndromic v0.936 PDE11A Zornitza Stark Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.935 PDE11A Zornitza Stark Classified gene: PDE11A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.935 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.934 PDE11A Zornitza Stark reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.934 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.933 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.932 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.931 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations
Review for gene: TMX2 was set to GREEN
Added comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Marked gene: PDE10A as ready
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Added comment: Comment when marking as ready: Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.930 PDE10A Zornitza Stark Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921
Intellectual disability syndromic and non-syndromic v0.929 PDE10A Zornitza Stark Publications for gene: PDE10A were set to
Intellectual disability syndromic and non-syndromic v0.928 PDE10A Zornitza Stark Mode of inheritance for gene: PDE10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.927 PDE10A Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Classified gene: PCYT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.927 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.926 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert Review
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Global developmental delay with regression; spastic para- or tetra paresis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Five unrelated individuals. Variants are hypomorphic.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Marked gene: PCLO as ready
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Classified gene: PCLO as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.925 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.924 PCLO Zornitza Stark Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027
Intellectual disability syndromic and non-syndromic v0.923 PCLO Zornitza Stark Publications for gene: PCLO were set to
Intellectual disability syndromic and non-syndromic v0.922 PCLO Zornitza Stark Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.921 PCLO Zornitza Stark Classified gene: PCLO as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.921 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Marked gene: PCDH9 as ready
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Gene: pcdh9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Classified gene: PCDH9 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.920 PCDH9 Zornitza Stark Gene: pcdh9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.919 PCDH9 Zornitza Stark reviewed gene: PCDH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.919 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from to Deafness, autosomal recessive 23, MIM#609533
Intellectual disability syndromic and non-syndromic v0.918 PCDH15 Zornitza Stark Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.917 PCDH15 Zornitza Stark Classified gene: PCDH15 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.917 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.916 PCDH15 Zornitza Stark reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 23, MIM#609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.916 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Intellectual disability syndromic and non-syndromic v0.916 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.916 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280
Intellectual disability syndromic and non-syndromic v0.915 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Intellectual disability syndromic and non-syndromic v0.914 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.913 PCDH12 Zornitza Stark reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.913 PCBD1 Zornitza Stark Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM#264070
Intellectual disability syndromic and non-syndromic v0.912 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.911 PCBD1 Zornitza Stark Classified gene: PCBD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.911 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.910 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.910 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Intellectual disability syndromic and non-syndromic v0.910 PAX3 Zornitza Stark Gene: pax3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.910 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from to Craniofacial-deafness-hand syndrome, MIM#122880; Waardenburg syndrome, type 1, MIM#193500; Waardenburg syndrome, type 3, MIM#148820
Intellectual disability syndromic and non-syndromic v0.909 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.908 PAX3 Zornitza Stark Classified gene: PAX3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.908 PAX3 Zornitza Stark Gene: pax3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.907 PAX3 Zornitza Stark reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, MIM#122880, Waardenburg syndrome, type 1, MIM#193500, Waardenburg syndrome, type 3, MIM#148820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.907 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Intellectual disability syndromic and non-syndromic v0.907 PAX2 Zornitza Stark Gene: pax2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.907 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM#120330
Intellectual disability syndromic and non-syndromic v0.906 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.905 PAX2 Zornitza Stark Classified gene: PAX2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.905 PAX2 Zornitza Stark Gene: pax2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.904 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM#120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.904 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1, MIM#234200
Intellectual disability syndromic and non-syndromic v0.903 PANK2 Zornitza Stark Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.902 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.902 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.901 PANK2 Zornitza Stark reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.901 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Intellectual disability syndromic and non-syndromic v0.901 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.901 PAM16 Zornitza Stark Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320
Intellectual disability syndromic and non-syndromic v0.900 PAM16 Zornitza Stark Publications for gene: PAM16 were set to
Intellectual disability syndromic and non-syndromic v0.899 PAM16 Zornitza Stark Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PAM16 Zornitza Stark reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.898 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Epileptic encephalopathy, early infantile, 66, MIM#618067
Intellectual disability syndromic and non-syndromic v0.897 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Intellectual disability syndromic and non-syndromic v0.896 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.895 PACS2 Zornitza Stark reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858; Phenotypes: Epileptic encephalopathy, early infantile, 66, MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.895 Zornitza Stark Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Added comment: Comment when marking as ready: Multiple affected individuals, age of onset variable, may be after viral trigger.
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.893 NUP62 Zornitza Stark Publications for gene: NUP62 were set to
Intellectual disability syndromic and non-syndromic v0.892 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile, MIM#271930
Intellectual disability syndromic and non-syndromic v0.891 NUP62 Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.890 NUP62 Zornitza Stark Classified gene: NUP62 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.890 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.889 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Striatonigral degeneration, infantile, MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.889 NRXN2 Zornitza Stark Marked gene: NRXN2 as ready
Intellectual disability syndromic and non-syndromic v0.889 NRXN2 Zornitza Stark Gene: nrxn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.889 NRXN2 Zornitza Stark Phenotypes for gene: NRXN2 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.888 NRXN2 Zornitza Stark Publications for gene: NRXN2 were set to
Intellectual disability syndromic and non-syndromic v0.887 NRXN2 Zornitza Stark Mode of inheritance for gene: NRXN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.886 NRXN2 Zornitza Stark Classified gene: NRXN2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.886 NRXN2 Zornitza Stark Gene: nrxn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.885 NRXN2 Zornitza Stark reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: 21424692, 30709877, 25745399; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.885 NR4A2 Zornitza Stark Marked gene: NR4A2 as ready
Intellectual disability syndromic and non-syndromic v0.885 NR4A2 Zornitza Stark Gene: nr4a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.885 NR4A2 Zornitza Stark Phenotypes for gene: NR4A2 were changed from to Intellectual disability; rolandic epilepsy; autism
Intellectual disability syndromic and non-syndromic v0.884 NR4A2 Zornitza Stark Publications for gene: NR4A2 were set to
Intellectual disability syndromic and non-syndromic v0.883 NR4A2 Zornitza Stark Mode of inheritance for gene: NR4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.882 NR4A2 Zornitza Stark Classified gene: NR4A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.882 NR4A2 Zornitza Stark Gene: nr4a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.881 NR4A2 Zornitza Stark reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31428396, 30504930, 29770430; Phenotypes: Intellectual disability, rolandic epilepsy, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.881 NIN Zornitza Stark Marked gene: NIN as ready
Intellectual disability syndromic and non-syndromic v0.881 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.881 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Intellectual disability syndromic and non-syndromic v0.880 NIN Zornitza Stark Publications for gene: NIN were set to
Intellectual disability syndromic and non-syndromic v0.879 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.878 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.878 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.877 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310
Intellectual disability syndromic and non-syndromic v0.876 NOTCH3 Zornitza Stark Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.875 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.875 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.874 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.874 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Intellectual disability syndromic and non-syndromic v0.873 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Intellectual disability syndromic and non-syndromic v0.872 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.871 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.871 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.870 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.870 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Intellectual disability syndromic and non-syndromic v0.870 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.870 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780
Intellectual disability syndromic and non-syndromic v0.869 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.868 NHLRC1 Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.868 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.867 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Marked gene: NFIB as ready
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Gene: nfib has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Classified gene: NFIB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.867 NFIB Zornitza Stark Gene: nfib has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.866 NFIB Zornitza Stark gene: NFIB was added
gene: NFIB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Review for gene: NFIB was set to GREEN
Added comment: 18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Marked gene: NEGR1 as ready
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Gene: negr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Classified gene: NEGR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.865 NEGR1 Zornitza Stark Gene: negr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.864 NEGR1 Zornitza Stark reviewed gene: NEGR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.864 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Intellectual disability syndromic and non-syndromic v0.864 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.864 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM#617201
Intellectual disability syndromic and non-syndromic v0.863 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.862 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Marked gene: NECAP1 as ready
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.862 NECAP1 Zornitza Stark Phenotypes for gene: NECAP1 were changed from to Epileptic encephalopathy, early infantile, 21, MIM#615833
Intellectual disability syndromic and non-syndromic v0.861 NECAP1 Zornitza Stark Publications for gene: NECAP1 were set to
Intellectual disability syndromic and non-syndromic v0.860 NECAP1 Zornitza Stark Mode of inheritance for gene: NECAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Added comment: Comment on list classification: Three families, but two of these have the same founder variant; no functional data.
Intellectual disability syndromic and non-syndromic v0.859 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.858 NECAP1 Zornitza Stark reviewed gene: NECAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24399846, 30626896, 30525121; Phenotypes: Epileptic encephalopathy, early infantile, 21, MIM#615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.858 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Intellectual disability syndromic and non-syndromic v0.858 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.858 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7, MIM#618229
Intellectual disability syndromic and non-syndromic v0.857 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Intellectual disability syndromic and non-syndromic v0.856 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.855 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12754703, 26008862, 29554876; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.855 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Intellectual disability syndromic and non-syndromic v0.855 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.855 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9, MIM#618232
Intellectual disability syndromic and non-syndromic v0.854 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Intellectual disability syndromic and non-syndromic v0.853 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.852 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 22474353; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.852 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Intellectual disability syndromic and non-syndromic v0.852 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.852 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8, MIM#618230
Intellectual disability syndromic and non-syndromic v0.851 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Intellectual disability syndromic and non-syndromic v0.850 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.849 NDUFS3 Zornitza Stark reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14729820, 22499348, 30140060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.849 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Intellectual disability syndromic and non-syndromic v0.849 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.849 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, MIM#618228
Intellectual disability syndromic and non-syndromic v0.848 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Intellectual disability syndromic and non-syndromic v0.847 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.846 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11220739, 31411514, 29272804; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.846 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Intellectual disability syndromic and non-syndromic v0.845 NDUFB9 Zornitza Stark Publications for gene: NDUFB9 were set to
Intellectual disability syndromic and non-syndromic v0.844 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.844 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.843 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.843 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Intellectual disability syndromic and non-syndromic v0.843 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.843 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246
Intellectual disability syndromic and non-syndromic v0.842 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Intellectual disability syndromic and non-syndromic v0.841 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.840 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.840 NDUFAF6 Zornitza Stark Marked gene: NDUFAF6 as ready
Intellectual disability syndromic and non-syndromic v0.840 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.840 NDUFAF6 Zornitza Stark Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17, MIM#618239
Intellectual disability syndromic and non-syndromic v0.839 NDUFAF6 Zornitza Stark Publications for gene: NDUFAF6 were set to
Intellectual disability syndromic and non-syndromic v0.838 NDUFAF6 Zornitza Stark Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF6 Zornitza Stark reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 18614015; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.837 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15, MIM#618237
Intellectual disability syndromic and non-syndromic v0.836 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Intellectual disability syndromic and non-syndromic v0.835 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179882, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.834 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18, MIM#618240
Intellectual disability syndromic and non-syndromic v0.833 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Intellectual disability syndromic and non-syndromic v0.832 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.831 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Intellectual disability syndromic and non-syndromic v0.830 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Intellectual disability syndromic and non-syndromic v0.829 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.828 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 24963768; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, MIM#618234; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.828 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Intellectual disability syndromic and non-syndromic v0.828 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.828 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26, MIM#618247
Intellectual disability syndromic and non-syndromic v0.827 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Intellectual disability syndromic and non-syndromic v0.826 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513682, 28857146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.825 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Intellectual disability syndromic and non-syndromic v0.825 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.825 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Intellectual disability syndromic and non-syndromic v0.824 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Intellectual disability syndromic and non-syndromic v0.823 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.822 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.822 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.821 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.821 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Intellectual disability syndromic and non-syndromic v0.821 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.821 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Intellectual disability syndromic and non-syndromic v0.820 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Intellectual disability syndromic and non-syndromic v0.819 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.818 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Marked gene: NDN as ready
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Classified gene: NDN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.818 NDN Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.817 NDN Zornitza Stark reviewed gene: NDN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Marked gene: NAGS as ready
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Gene: nags has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.817 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency, MIM#237310
Intellectual disability syndromic and non-syndromic v0.816 NAGS Zornitza Stark Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.815 NAGS Zornitza Stark Classified gene: NAGS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.815 NAGS Zornitza Stark Gene: nags has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.814 NAGS Zornitza Stark reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency, MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.814 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Intellectual disability syndromic and non-syndromic v0.814 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.814 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM#615651
Intellectual disability syndromic and non-syndromic v0.813 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Intellectual disability syndromic and non-syndromic v0.812 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.811 CLCN2 Zornitza Stark Classified gene: CLCN2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.811 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.810 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Intellectual disability syndromic and non-syndromic v0.810 CISD2 Zornitza Stark Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.810 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928
Intellectual disability syndromic and non-syndromic v0.809 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.808 CISD2 Zornitza Stark Classified gene: CISD2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.808 CISD2 Zornitza Stark Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.807 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Intellectual disability syndromic and non-syndromic v0.807 CHST14 Zornitza Stark Gene: chst14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.807 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Intellectual disability syndromic and non-syndromic v0.806 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Intellectual disability syndromic and non-syndromic v0.805 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.804 CHST14 Zornitza Stark Classified gene: CHST14 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.804 CHST14 Zornitza Stark Gene: chst14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Classified gene: CACNA1E as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.803 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Classified gene: ATAD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.802 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Classified gene: ASTN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Marked gene: ASH1L as ready
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Classified gene: ASH1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.800 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.799 AGO3 Zornitza Stark gene: AGO3 was added
gene: AGO3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: AGO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO3 were set to 25271087
Phenotypes for gene: AGO3 were set to Intellectual disability
Review for gene: AGO3 was set to RED
Added comment: Five children with heterozygous deletions of AGO3 reported; however deletions also encompass AGO1 and therefore gene-disease association cannot be firmly established until SNVs reported/functional data becomes available.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.798 ADRA2B Zornitza Stark gene: ADRA2B was added
gene: ADRA2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ADRA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 24114805; 21937992
Phenotypes for gene: ADRA2B were set to Cortical myoclonus and epilepsy; Intellectual disability
Review for gene: ADRA2B was set to RED
Added comment: Two families reported but same mutation, ?founder effect. Most affected individuals had normal intellect.
Another paper linking to AR intellectual disability but as part of manuscript reporting multiple novel candidates.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.797 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Intellectual disability syndromic and non-syndromic v0.797 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.797 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400
Intellectual disability syndromic and non-syndromic v0.796 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.795 CFHR3 Zornitza Stark Classified gene: CFHR3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.795 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.794 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Intellectual disability syndromic and non-syndromic v0.794 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.794 CFHR1 Zornitza Stark Phenotypes for gene: CFHR1 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400
Intellectual disability syndromic and non-syndromic v0.793 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.792 CFHR1 Zornitza Stark Classified gene: CFHR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.792 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.791 CFH Zornitza Stark Marked gene: CFH as ready
Intellectual disability syndromic and non-syndromic v0.791 CFH Zornitza Stark Gene: cfh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.791 CFH Zornitza Stark Phenotypes for gene: CFH were changed from to Complement factor H deficiency, MIM#609814
Intellectual disability syndromic and non-syndromic v0.790 CFH Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.789 CFH Zornitza Stark Classified gene: CFH as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.789 CFH Zornitza Stark Gene: cfh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.788 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Intellectual disability syndromic and non-syndromic v0.788 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.788 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.787 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Intellectual disability syndromic and non-syndromic v0.786 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.785 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.785 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.784 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Intellectual disability syndromic and non-syndromic v0.784 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.784 CEP63 Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728
Intellectual disability syndromic and non-syndromic v0.783 CEP63 Zornitza Stark Publications for gene: CEP63 were set to
Intellectual disability syndromic and non-syndromic v0.782 CEP63 Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.781 CEP63 Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.781 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.780 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Intellectual disability syndromic and non-syndromic v0.780 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.780 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM#613804
Intellectual disability syndromic and non-syndromic v0.779 CDT1 Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.778 CDT1 Zornitza Stark Classified gene: CDT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.778 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Marked gene: CDK6 as ready
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.777 CDK6 Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080
Intellectual disability syndromic and non-syndromic v0.776 CDK6 Zornitza Stark Publications for gene: CDK6 were set to
Intellectual disability syndromic and non-syndromic v0.775 CDK6 Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.774 CDK6 Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.774 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.773 CDK16 Zornitza Stark Marked gene: CDK16 as ready
Intellectual disability syndromic and non-syndromic v0.773 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.773 CDK16 Zornitza Stark Phenotypes for gene: CDK16 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.772 CDK16 Zornitza Stark Publications for gene: CDK16 were set to
Intellectual disability syndromic and non-syndromic v0.771 CDK16 Zornitza Stark Mode of inheritance for gene: CDK16 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.770 CDK16 Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.770 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.769 CD96 Zornitza Stark Marked gene: CD96 as ready
Intellectual disability syndromic and non-syndromic v0.769 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.769 CD96 Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750
Intellectual disability syndromic and non-syndromic v0.768 CD96 Zornitza Stark Publications for gene: CD96 were set to
Intellectual disability syndromic and non-syndromic v0.767 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.766 CD96 Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.766 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.765 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Intellectual disability syndromic and non-syndromic v0.765 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.765 CCDC8 Zornitza Stark Phenotypes for gene: CCDC8 were changed from to 3-M syndrome 3, MIM#614205
Intellectual disability syndromic and non-syndromic v0.764 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Intellectual disability syndromic and non-syndromic v0.763 CCDC8 Zornitza Stark Mode of inheritance for gene: CCDC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.762 CCDC8 Zornitza Stark Classified gene: CCDC8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.762 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.761 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807
Intellectual disability syndromic and non-syndromic v0.760 CCDC78 Zornitza Stark Publications for gene: CCDC78 were set to
Intellectual disability syndromic and non-syndromic v0.759 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.758 CCDC78 Zornitza Stark Classified gene: CCDC78 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.758 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.757 CACNA1G Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Intellectual disability syndromic and non-syndromic v0.756 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Intellectual disability syndromic and non-syndromic v0.755 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Marked gene: CA8 as ready
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.754 CA8 Zornitza Stark Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Intellectual disability syndromic and non-syndromic v0.753 CA8 Zornitza Stark Publications for gene: CA8 were set to
Intellectual disability syndromic and non-syndromic v0.752 CA8 Zornitza Stark Mode of inheritance for gene: CA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Marked gene: CA2 as ready
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.751 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Intellectual disability syndromic and non-syndromic v0.750 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Marked gene: C3orf58 as ready
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Classified gene: C3orf58 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.749 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.748 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM#614298
Intellectual disability syndromic and non-syndromic v0.747 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.746 C19orf12 Zornitza Stark Classified gene: C19orf12 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.746 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.745 BSND Zornitza Stark Marked gene: BSND as ready
Intellectual disability syndromic and non-syndromic v0.745 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.745 BSND Zornitza Stark Phenotypes for gene: BSND were changed from to Bartter syndrome, type 4a, MIM#602522
Intellectual disability syndromic and non-syndromic v0.744 BSND Zornitza Stark Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.743 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Intellectual disability syndromic and non-syndromic v0.742 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Intellectual disability syndromic and non-syndromic v0.741 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.740 BMPER Zornitza Stark Marked gene: BMPER as ready
Intellectual disability syndromic and non-syndromic v0.740 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.740 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022
Intellectual disability syndromic and non-syndromic v0.739 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.738 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290
Intellectual disability syndromic and non-syndromic v0.737 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.736 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.736 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.735 BDNF Zornitza Stark Marked gene: BDNF as ready
Intellectual disability syndromic and non-syndromic v0.735 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.735 BDNF Zornitza Stark Phenotypes for gene: BDNF were changed from to Central hypoventilation syndrome, congenital, MIM#209880
Intellectual disability syndromic and non-syndromic v0.734 BDNF Zornitza Stark Mode of inheritance for gene: BDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.733 BDNF Zornitza Stark Classified gene: BDNF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.733 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.732 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Intellectual disability syndromic and non-syndromic v0.732 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.732 BBIP1 Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995
Intellectual disability syndromic and non-syndromic v0.731 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to
Intellectual disability syndromic and non-syndromic v0.730 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.729 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.729 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.728 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Intellectual disability syndromic and non-syndromic v0.728 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.728 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175
Intellectual disability syndromic and non-syndromic v0.727 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Intellectual disability syndromic and non-syndromic v0.726 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.725 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Intellectual disability syndromic and non-syndromic v0.725 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.725 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209
Intellectual disability syndromic and non-syndromic v0.724 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Intellectual disability syndromic and non-syndromic v0.723 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.722 B4GALT1 Zornitza Stark Marked gene: B4GALT1 as ready
Intellectual disability syndromic and non-syndromic v0.722 B4GALT1 Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.722 B4GALT1 Zornitza Stark Phenotypes for gene: B4GALT1 were changed from to Congenital disorder of glycosylation, type Iid, MIM#607091
Intellectual disability syndromic and non-syndromic v0.721 B4GALT1 Zornitza Stark Publications for gene: B4GALT1 were set to
Intellectual disability syndromic and non-syndromic v0.720 B4GALT1 Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.719 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600
Intellectual disability syndromic and non-syndromic v0.718 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.717 B3GAT3 Zornitza Stark Classified gene: B3GAT3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.717 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.716 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Intellectual disability syndromic and non-syndromic v0.715 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.714 B3GALT6 Zornitza Stark Classified gene: B3GALT6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.714 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Marked gene: AHCY as ready
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.713 AHCY Zornitza Stark Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Intellectual disability syndromic and non-syndromic v0.712 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Marked gene: ASNS as ready
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.711 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574
Intellectual disability syndromic and non-syndromic v0.710 ASL Zornitza Stark Marked gene: ASL as ready
Intellectual disability syndromic and non-syndromic v0.710 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.710 ASL Zornitza Stark Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria, MIM#207900
Intellectual disability syndromic and non-syndromic v0.709 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.708 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Intellectual disability syndromic and non-syndromic v0.708 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.708 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760
Intellectual disability syndromic and non-syndromic v0.707 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Intellectual disability syndromic and non-syndromic v0.706 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.705 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Intellectual disability syndromic and non-syndromic v0.705 ALX1 Zornitza Stark Gene: alx1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.705 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Intellectual disability syndromic and non-syndromic v0.704 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Intellectual disability syndromic and non-syndromic v0.703 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.702 ALX1 Zornitza Stark Classified gene: ALX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.702 ALX1 Zornitza Stark Gene: alx1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.701 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.700 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Intellectual disability syndromic and non-syndromic v0.699 ALG14 Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.698 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Intellectual disability syndromic and non-syndromic v0.698 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.698 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM#229600
Intellectual disability syndromic and non-syndromic v0.697 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.696 AGA Zornitza Stark Marked gene: AGA as ready
Intellectual disability syndromic and non-syndromic v0.696 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.696 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM#208400
Intellectual disability syndromic and non-syndromic v0.695 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.694 ADD3 Zornitza Stark Marked gene: ADD3 as ready
Intellectual disability syndromic and non-syndromic v0.694 ADD3 Zornitza Stark Gene: add3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.694 ADD3 Zornitza Stark Phenotypes for gene: ADD3 were changed from to Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Intellectual disability syndromic and non-syndromic v0.693 ADD3 Zornitza Stark Publications for gene: ADD3 were set to
Intellectual disability syndromic and non-syndromic v0.692 ADD3 Zornitza Stark Mode of inheritance for gene: ADD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Marked gene: ADAT3 as ready
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Gene: adat3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.691 ADAT3 Zornitza Stark Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286
Intellectual disability syndromic and non-syndromic v0.690 ADAT3 Zornitza Stark Publications for gene: ADAT3 were set to
Intellectual disability syndromic and non-syndromic v0.689 ADAT3 Zornitza Stark Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.688 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Intellectual disability syndromic and non-syndromic v0.688 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.688 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Intellectual disability syndromic and non-syndromic v0.687 ADAMTS10 Zornitza Stark Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.686 ACTL6A Zornitza Stark Marked gene: ACTL6A as ready
Intellectual disability syndromic and non-syndromic v0.686 ACTL6A Zornitza Stark Gene: actl6a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.686 ACTL6A Zornitza Stark Phenotypes for gene: ACTL6A were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.685 ACTL6A Zornitza Stark Publications for gene: ACTL6A were set to
Intellectual disability syndromic and non-syndromic v0.684 ACTL6A Zornitza Stark Mode of inheritance for gene: ACTL6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.683 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Intellectual disability syndromic and non-syndromic v0.683 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.683 AVPR2 Zornitza Stark Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic, MIM#304800
Intellectual disability syndromic and non-syndromic v0.682 AVPR2 Zornitza Stark Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.681 AVPR2 Zornitza Stark Classified gene: AVPR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.681 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Marked gene: AVPR1A as ready
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Classified gene: AVPR1A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.680 AVPR1A Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.679 AVP Zornitza Stark Marked gene: AVP as ready
Intellectual disability syndromic and non-syndromic v0.679 AVP Zornitza Stark Gene: avp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.679 AVP Zornitza Stark Phenotypes for gene: AVP were changed from to Diabetes insipidus, neurohypophyseal, MIM#125700
Intellectual disability syndromic and non-syndromic v0.678 AVP Zornitza Stark Mode of inheritance for gene: AVP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.677 AVP Zornitza Stark Classified gene: AVP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.677 AVP Zornitza Stark Gene: avp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.676 ATXN10 Zornitza Stark Marked gene: ATXN10 as ready
Intellectual disability syndromic and non-syndromic v0.676 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.676 ATXN10 Zornitza Stark Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, MIM#603516
Intellectual disability syndromic and non-syndromic v0.675 ATXN10 Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.674 ATXN10 Zornitza Stark Classified gene: ATXN10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.674 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.673 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Intellectual disability syndromic and non-syndromic v0.673 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.673 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Intellectual disability syndromic and non-syndromic v0.672 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Intellectual disability syndromic and non-syndromic v0.671 ATP8A2 Zornitza Stark Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.670 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Intellectual disability syndromic and non-syndromic v0.670 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.670 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Intellectual disability syndromic and non-syndromic v0.669 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Intellectual disability syndromic and non-syndromic v0.668 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.668 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.667 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Intellectual disability syndromic and non-syndromic v0.667 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.667 ATP2A2 Zornitza Stark Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM#124200
Intellectual disability syndromic and non-syndromic v0.666 ATP2A2 Zornitza Stark Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.665 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.665 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.664 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Intellectual disability syndromic and non-syndromic v0.664 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.664 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM#614820
Intellectual disability syndromic and non-syndromic v0.663 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.662 ATP1A3 Zornitza Stark Classified gene: ATP1A3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.662 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.661 ATP10A Zornitza Stark Marked gene: ATP10A as ready
Intellectual disability syndromic and non-syndromic v0.661 ATP10A Zornitza Stark Gene: atp10a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.661 ATP10A Zornitza Stark Publications for gene: ATP10A were set to
Intellectual disability syndromic and non-syndromic v0.660 ATP10A Zornitza Stark Mode of inheritance for gene: ATP10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.659 ATP10A Zornitza Stark Classified gene: ATP10A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.659 ATP10A Zornitza Stark Gene: atp10a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.658 ARNT2 Zornitza Stark Marked gene: ARNT2 as ready
Intellectual disability syndromic and non-syndromic v0.658 ARNT2 Zornitza Stark Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.658 ARNT2 Zornitza Stark Phenotypes for gene: ARNT2 were changed from to Webb-Dattani syndrome 615926
Intellectual disability syndromic and non-syndromic v0.657 ARNT2 Zornitza Stark Publications for gene: ARNT2 were set to
Intellectual disability syndromic and non-syndromic v0.656 ARNT2 Zornitza Stark Mode of inheritance for gene: ARNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.655 ARNT2 Zornitza Stark Classified gene: ARNT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.655 ARNT2 Zornitza Stark Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.654 ARHGAP31 Zornitza Stark Marked gene: ARHGAP31 as ready
Intellectual disability syndromic and non-syndromic v0.654 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.654 ARHGAP31 Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from to Adams-Oliver syndrome 1, MIM#100300
Intellectual disability syndromic and non-syndromic v0.653 ARHGAP31 Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.652 ARHGAP31 Zornitza Stark Classified gene: ARHGAP31 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.652 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Marked gene: APTX as ready
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.651 APTX Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920
Intellectual disability syndromic and non-syndromic v0.650 APTX Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.649 APTX Zornitza Stark Classified gene: APTX as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.649 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.648 ANKH Zornitza Stark Marked gene: ANKH as ready
Intellectual disability syndromic and non-syndromic v0.648 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.648 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from to Craniometaphyseal dysplasia, MIM#123000
Intellectual disability syndromic and non-syndromic v0.647 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.646 ANKH Zornitza Stark Classified gene: ANKH as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.646 ANKH Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.645 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Intellectual disability syndromic and non-syndromic v0.645 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.645 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from to Spastic paralysis, infantile onset ascending, MIM#607225
Intellectual disability syndromic and non-syndromic v0.644 ALS2 Zornitza Stark Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.643 ALS2 Zornitza Stark Classified gene: ALS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.643 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.642 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Intellectual disability syndromic and non-syndromic v0.642 ALDOA Zornitza Stark Gene: aldoa has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.642 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII, MIM#611881
Intellectual disability syndromic and non-syndromic v0.641 ALDOA Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.640 ALDOA Zornitza Stark Classified gene: ALDOA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.640 ALDOA Zornitza Stark Gene: aldoa has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.639 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Intellectual disability syndromic and non-syndromic v0.639 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.639 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM#614279
Intellectual disability syndromic and non-syndromic v0.638 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.637 AKR1C2 Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.637 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.636 AKAP6 Zornitza Stark Marked gene: AKAP6 as ready
Intellectual disability syndromic and non-syndromic v0.636 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.636 AKAP6 Zornitza Stark Phenotypes for gene: AKAP6 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.635 AKAP6 Zornitza Stark Publications for gene: AKAP6 were set to
Intellectual disability syndromic and non-syndromic v0.634 AKAP6 Zornitza Stark Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.633 AKAP6 Zornitza Stark Classified gene: AKAP6 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.633 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Marked gene: AGTR2 as ready
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Classified gene: AGTR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.632 AGTR2 Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.631 AGT Zornitza Stark Marked gene: AGT as ready
Intellectual disability syndromic and non-syndromic v0.631 AGT Zornitza Stark Gene: agt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.631 AGT Zornitza Stark Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM#267430
Intellectual disability syndromic and non-syndromic v0.630 AGT Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.629 AGT Zornitza Stark Classified gene: AGT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.629 AGT Zornitza Stark Gene: agt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.628 AGPS Zornitza Stark Marked gene: AGPS as ready
Intellectual disability syndromic and non-syndromic v0.628 AGPS Zornitza Stark Gene: agps has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.628 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Intellectual disability syndromic and non-syndromic v0.627 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.626 AGPS Zornitza Stark Classified gene: AGPS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.626 AGPS Zornitza Stark Gene: agps has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.625 AGK Zornitza Stark Marked gene: AGK as ready
Intellectual disability syndromic and non-syndromic v0.625 AGK Zornitza Stark Gene: agk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.625 AGK Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350
Intellectual disability syndromic and non-syndromic v0.624 AGK Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.623 AGK Zornitza Stark Classified gene: AGK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.623 AGK Zornitza Stark Gene: agk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Marked gene: AGGF1 as ready
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Classified gene: AGGF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.622 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.621 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive, MIM#614487
Intellectual disability syndromic and non-syndromic v0.620 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.619 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.619 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Marked gene: CHD1 as ready
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Classified gene: CHD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.618 CHD1 Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.617 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM#606703
Intellectual disability syndromic and non-syndromic v0.616 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.615 ADCY5 Zornitza Stark Classified gene: ADCY5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.615 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.614 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Intellectual disability syndromic and non-syndromic v0.614 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.614 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from to Geleophysic dysplasia 1, MIM#231050
Intellectual disability syndromic and non-syndromic v0.613 ADAMTSL2 Zornitza Stark Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.612 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.612 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.611 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Intellectual disability syndromic and non-syndromic v0.611 ADA2 Zornitza Stark Gene: ada2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.611 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688
Intellectual disability syndromic and non-syndromic v0.610 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.609 ADA2 Zornitza Stark Classified gene: ADA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.609 ADA2 Zornitza Stark Gene: ada2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.608 MAP4K4 Zornitza Stark Marked gene: MAP4K4 as ready
Intellectual disability syndromic and non-syndromic v0.608 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.608 MAP4K4 Zornitza Stark gene: MAP4K4 was added
gene: MAP4K4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: MAP4K4 was set to Unknown
Review for gene: MAP4K4 was set to RED
Added comment: Cannot find evidence for gene-disease association.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Classified gene: LZTR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.607 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.606 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275
Review for gene: LZTR1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.605 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Intellectual disability syndromic and non-syndromic v0.605 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.605 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM#609049
Intellectual disability syndromic and non-syndromic v0.604 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.603 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.603 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.602 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011; Phenotypes: Bardet-Biedl syndrome 17, MIM#615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.602 LYST Zornitza Stark Marked gene: LYST as ready
Intellectual disability syndromic and non-syndromic v0.602 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.602 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500
Intellectual disability syndromic and non-syndromic v0.601 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.600 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.600 LYRM7 Zornitza Stark Marked gene: LYRM7 as ready
Intellectual disability syndromic and non-syndromic v0.600 LYRM7 Zornitza Stark Gene: lyrm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.600 LYRM7 Zornitza Stark Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
Intellectual disability syndromic and non-syndromic v0.599 LYRM7 Zornitza Stark Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LYRM7 Zornitza Stark reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.598 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from to Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Intellectual disability syndromic and non-syndromic v0.597 LMNB1 Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.596 LMNB1 Zornitza Stark Classified gene: LMNB1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.596 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.595 LMNB1 Zornitza Stark reviewed gene: LMNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Marked gene: LMNA as ready
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Classified gene: LMNA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.595 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.594 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.594 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Intellectual disability syndromic and non-syndromic v0.594 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.594 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299
Intellectual disability syndromic and non-syndromic v0.593 LIPT1 Zornitza Stark Publications for gene: LIPT1 were set to
Intellectual disability syndromic and non-syndromic v0.592 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.591 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 24256811, 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.591 LINGO1 Zornitza Stark Classified gene: LINGO1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.591 LINGO1 Zornitza Stark Gene: lingo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Marked gene: LINGO1 as ready
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Gene: lingo1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Classified gene: LINGO1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.590 LINGO1 Zornitza Stark Gene: lingo1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.589 LINGO1 Zornitza Stark gene: LINGO1 was added
gene: LINGO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64, MIM#618103
Review for gene: LINGO1 was set to GREEN
Added comment: Five individuals from two unrelated families, no functional evidence.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.588 LIAS Zornitza Stark Marked gene: LIAS as ready
Intellectual disability syndromic and non-syndromic v0.588 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.588 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM#614462
Intellectual disability syndromic and non-syndromic v0.587 LIAS Zornitza Stark Publications for gene: LIAS were set to
Intellectual disability syndromic and non-syndromic v0.586 LIAS Zornitza Stark Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LIAS Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Marked gene: LGI4 as ready
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Gene: lgi4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.585 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Intellectual disability syndromic and non-syndromic v0.584 LGI4 Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.583 LGI4 Zornitza Stark Classified gene: LGI4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.583 LGI4 Zornitza Stark Gene: lgi4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.582 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Marked gene: LBR as ready
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Gene: lbr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.582 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140; 3 Pelger-Huet anomaly, MIM#169400
Intellectual disability syndromic and non-syndromic v0.581 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.580 LBR Zornitza Stark Classified gene: LBR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.580 LBR Zornitza Stark Gene: lbr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.579 LBR Zornitza Stark reviewed gene: LBR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Greenberg skeletal dysplasia, MIM#215140, 3 Pelger-Huet anomaly, MIM#169400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark edited their review of gene: KYNU: Changed phenotypes: Hydroxykynureninuria, MIM#236800, Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark Marked gene: KYNU as ready
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark Gene: kynu has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.579 KYNU Zornitza Stark Phenotypes for gene: KYNU were changed from to Hydroxykynureninuria, MIM#236800
Intellectual disability syndromic and non-syndromic v0.578 KYNU Zornitza Stark Publications for gene: KYNU were set to
Intellectual disability syndromic and non-syndromic v0.577 KYNU Zornitza Stark Classified gene: KYNU as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.577 KYNU Zornitza Stark Gene: kynu has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.576 KYNU Zornitza Stark reviewed gene: KYNU: Rating: RED; Mode of pathogenicity: None; Publications: 28792876, 17334708; Phenotypes: Hydroxykynureninuria, MIM#236800; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Classified gene: KMT5B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.576 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.575 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT5B were set to 25363768; 28191889; 29276005
Phenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, MIM#617788
Review for gene: KMT5B was set to GREEN
Added comment: Multiple affected individuals from unrelated families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.574 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Intellectual disability syndromic and non-syndromic v0.574 KMT2B Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.574 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset, MIM#617284
Intellectual disability syndromic and non-syndromic v0.573 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.572 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset, MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.572 KLLN Zornitza Stark Publications for gene: KLLN were set to
Intellectual disability syndromic and non-syndromic v0.571 KLLN Zornitza Stark Classified gene: KLLN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.571 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.570 KLLN Zornitza Stark reviewed gene: KLLN: Rating: RED; Mode of pathogenicity: None; Publications: 21177507; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.570 KLF8 Zornitza Stark Marked gene: KLF8 as ready
Intellectual disability syndromic and non-syndromic v0.570 KLF8 Zornitza Stark Gene: klf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.570 KLF8 Zornitza Stark Publications for gene: KLF8 were set to
Intellectual disability syndromic and non-syndromic v0.569 KLF8 Zornitza Stark Classified gene: KLF8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.569 KLF8 Zornitza Stark Gene: klf8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.568 KLF8 Zornitza Stark reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: None; Publications: 11836360; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.568 KLF7 Zornitza Stark Phenotypes for gene: KLF7 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.567 KLF7 Zornitza Stark Publications for gene: KLF7 were set to
Intellectual disability syndromic and non-syndromic v0.566 KLF7 Zornitza Stark Mode of inheritance for gene: KLF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.565 KLF7 Zornitza Stark reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29251763; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.565 KIRREL3 Zornitza Stark Marked gene: KIRREL3 as ready
Intellectual disability syndromic and non-syndromic v0.565 KIRREL3 Zornitza Stark Gene: kirrel3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.565 KIRREL3 Zornitza Stark Phenotypes for gene: KIRREL3 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.564 KIRREL3 Zornitza Stark Publications for gene: KIRREL3 were set to
Intellectual disability syndromic and non-syndromic v0.563 KIRREL3 Zornitza Stark Mode of inheritance for gene: KIRREL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.562 KIRREL3 Zornitza Stark Classified gene: KIRREL3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.562 KIRREL3 Zornitza Stark Gene: kirrel3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.561 KIRREL3 Zornitza Stark reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.561 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Intellectual disability syndromic and non-syndromic v0.561 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.561 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from to Fibrosis of extraocular muscles, congenital, 1, MIM#135700
Intellectual disability syndromic and non-syndromic v0.560 KIF21A Zornitza Stark Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.559 KIF21A Zornitza Stark Classified gene: KIF21A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.559 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.558 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.558 KIF16B Zornitza Stark Marked gene: KIF16B as ready
Intellectual disability syndromic and non-syndromic v0.558 KIF16B Zornitza Stark Gene: kif16b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.558 KIF16B Zornitza Stark Phenotypes for gene: KIF16B were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.557 KIF16B Zornitza Stark Publications for gene: KIF16B were set to
Intellectual disability syndromic and non-syndromic v0.556 KIF16B Zornitza Stark Mode of inheritance for gene: KIF16B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.555 KIF16B Zornitza Stark Classified gene: KIF16B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.555 KIF16B Zornitza Stark Gene: kif16b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.554 KIF16B Zornitza Stark reviewed gene: KIF16B: Rating: RED; Mode of pathogenicity: None; Publications: 29736960; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Marked gene: KDM6B as ready
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Classified gene: KDM6B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.554 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.553 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124279
Phenotypes for gene: KDM6B were set to Intellectual disability
Review for gene: KDM6B was set to GREEN
Added comment: 12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.552 KCTD13 Zornitza Stark Marked gene: KCTD13 as ready
Intellectual disability syndromic and non-syndromic v0.552 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.552 KCTD13 Zornitza Stark Phenotypes for gene: KCTD13 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.551 KCTD13 Zornitza Stark Publications for gene: KCTD13 were set to
Intellectual disability syndromic and non-syndromic v0.550 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.549 KCTD13 Zornitza Stark Classified gene: KCTD13 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.549 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.548 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.548 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446
Intellectual disability syndromic and non-syndromic v0.547 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Intellectual disability syndromic and non-syndromic v0.546 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.545 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.545 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Intellectual disability syndromic and non-syndromic v0.545 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.545 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, MIM#241200
Intellectual disability syndromic and non-syndromic v0.544 KCNJ1 Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.543 KCNJ1 Zornitza Stark Classified gene: KCNJ1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.543 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.542 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.542 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Intellectual disability syndromic and non-syndromic v0.542 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.542 KCND3 Zornitza Stark Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, MIM#607346
Intellectual disability syndromic and non-syndromic v0.541 KCND3 Zornitza Stark Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.540 KCND3 Zornitza Stark Classified gene: KCND3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.540 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.539 KCND3 Zornitza Stark reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.539 KCNC3 Zornitza Stark Marked gene: KCNC3 as ready
Intellectual disability syndromic and non-syndromic v0.539 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.539 KCNC3 Zornitza Stark Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM#605259
Intellectual disability syndromic and non-syndromic v0.538 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.537 KCNC3 Zornitza Stark Classified gene: KCNC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.537 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.536 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Marked gene: KARS as ready
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.536 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.535 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly
Review for gene: KARS was set to GREEN
gene: KARS was marked as current diagnostic
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.534 TREM2 Chirag Patel Classified gene: TREM2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.534 TREM2 Chirag Patel Gene: trem2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.533 TREM2 Chirag Patel Source Genetic Health Queensland was removed from TREM2.
Source Expert list was added to TREM2.
Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2; OMIM #618193
Intellectual disability syndromic and non-syndromic v0.532 TREM2 Chirag Patel reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM #618193; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.532 TRHR Chirag Patel Classified gene: TRHR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.532 TRHR Chirag Patel Gene: trhr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.531 TRHR Chirag Patel Source Genetic Health Queensland was removed from TRHR.
Source Expert list was added to TRHR.
Mode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573
Intellectual disability syndromic and non-syndromic v0.530 TRHR Chirag Patel reviewed gene: TRHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, OMIM #618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.530 TRIM37 Chirag Patel Classified gene: TRIM37 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.530 TRIM37 Chirag Patel Gene: trim37 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.529 TRIM37 Chirag Patel Source Genetic Health Queensland was removed from TRIM37.
Source Expert list was added to TRIM37.
Mode of inheritance for gene TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism; OMIM #253250
Intellectual disability syndromic and non-syndromic v0.528 TRIM37 Chirag Patel reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.527 TRRAP Chirag Patel Classified gene: TRRAP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.527 TRRAP Chirag Patel Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel commented on gene: TRRAP: 31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP.
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel gene: TRRAP was added
gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to PubMed: 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454
Review for gene: TRRAP was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.525 TRMT1 Chirag Patel Publications for gene TRMT1 were changed from PMID: 30289604; 26308914; 21937992 to PMID: 30289604; 26308914; 21937992
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel edited their review of gene: TRMT1: Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.; Changed publications: PMID: 30289604, 26308914, 21937992
Intellectual disability syndromic and non-syndromic v0.524 TRMT1 Chirag Patel Source Genetic Health Queensland was removed from TRMT1.
Source Expert list was added to TRMT1.
Mode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302
Publications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914
Intellectual disability syndromic and non-syndromic v0.523 TRMT1 Chirag Patel reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30289604, 26308914; Phenotypes: Mental retardation, autosomal recessive 68, OMIM #618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.523 TRNT1 Chirag Patel Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 to Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084
Intellectual disability syndromic and non-syndromic v0.522 TRNT1 Chirag Patel Source Genetic Health Queensland was removed from TRNT1.
Source Expert list was added to TRNT1.
Mode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084
Publications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523
Intellectual disability syndromic and non-syndromic v0.521 TRNT1 Chirag Patel reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.521 TTC21B Chirag Patel Classified gene: TTC21B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.521 TTC21B Chirag Patel Gene: ttc21b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.520 TTC21B Chirag Patel Source Genetic Health Queensland was removed from TTC21B.
Source Expert list was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819
Intellectual disability syndromic and non-syndromic v0.519 TTC21B Chirag Patel reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, OMIM #613820, Short-rib thoracic dysplasia 4 with or without polydactyly, OMIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.519 TTR Chirag Patel Classified gene: TTR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.519 TTR Chirag Patel Gene: ttr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.518 TTR Chirag Patel Source Genetic Health Queensland was removed from TTR.
Source Expert list was added to TTR.
Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM #105210; Carpal tunnel syndrome, familial; OMIM #115430
Intellectual disability syndromic and non-syndromic v0.517 TTR Chirag Patel reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM #105210, Carpal tunnel syndrome, familial, OMIM #115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.517 TUFM Chirag Patel Classified gene: TUFM as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.517 TUFM Chirag Patel Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.516 TUFM Chirag Patel Source Genetic Health Queensland was removed from TUFM.
Source Expert list was added to TUFM.
Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678
Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel edited their review of gene: TUFM: Added comment: Developmental regression seen as part of mitochondrial disorder - 3 families

1 patient with rapidly progressive encephalopathy and homozygous missense mutation in the TUFM gene. No functional studies.

2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.515 TUFM Chirag Patel reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.515 TWNK Chirag Patel Classified gene: TWNK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.515 TWNK Chirag Patel Gene: twnk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.514 TWNK Chirag Patel Source Genetic Health Queensland was removed from TWNK.
Source Expert list was added to TWNK.
Mode of inheritance for gene TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245; Perrault syndrome 5, OMIM #616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286
Intellectual disability syndromic and non-syndromic v0.513 TWNK Chirag Patel reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245, Perrault syndrome 5, OMIM #616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.513 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Intellectual disability syndromic and non-syndromic v0.513 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.513 KANK1 Zornitza Stark Phenotypes for gene: KANK1 were changed from to Cerebral palsy, spastic quadriplegic, 2, MIM#612900
Intellectual disability syndromic and non-syndromic v0.512 KANK1 Zornitza Stark Publications for gene: KANK1 were set to
Intellectual disability syndromic and non-syndromic v0.511 KANK1 Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.510 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.510 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.509 KANK1 Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 16301218, 30684669; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Gene: acta1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.509 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800
Intellectual disability syndromic and non-syndromic v0.508 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to
Intellectual disability syndromic and non-syndromic v0.507 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.506 ACTA1 Zornitza Stark Classified gene: ACTA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.506 ACTA1 Zornitza Stark Gene: acta1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.505 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Intellectual disability syndromic and non-syndromic v0.505 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.505 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, MIM#618666
Intellectual disability syndromic and non-syndromic v0.504 ABCG5 Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.503 ABCG5 Zornitza Stark Classified gene: ABCG5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.503 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.502 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Intellectual disability syndromic and non-syndromic v0.502 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.502 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, MIM#118450
Intellectual disability syndromic and non-syndromic v0.501 JAG1 Zornitza Stark Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.500 JAG1 Zornitza Stark Classified gene: JAG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.500 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.499 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 1, MIM#118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Marked gene: IYD as ready
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.499 IYD Zornitza Stark Phenotypes for gene: IYD were changed from to Thyroid dyshormonogenesis 4, MIM#274800
Intellectual disability syndromic and non-syndromic v0.498 IYD Zornitza Stark Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.497 IYD Zornitza Stark Classified gene: IYD as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.497 IYD Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.496 IYD Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM#274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Marked gene: ITCH as ready
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Gene: itch has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.496 ITCH Zornitza Stark Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Intellectual disability syndromic and non-syndromic v0.495 ITCH Zornitza Stark Publications for gene: ITCH were set to
Intellectual disability syndromic and non-syndromic v0.494 ITCH Zornitza Stark Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.493 ITCH Zornitza Stark Classified gene: ITCH as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.493 ITCH Zornitza Stark Gene: itch has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.492 ITCH Zornitza Stark reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Classified gene: IREB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.492 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.491 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.490 INS Zornitza Stark Marked gene: INS as ready
Intellectual disability syndromic and non-syndromic v0.490 INS Zornitza Stark Gene: ins has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.490 INS Zornitza Stark Phenotypes for gene: INS were changed from to Diabetes mellitus, permanent neonatal, MIM#606176
Intellectual disability syndromic and non-syndromic v0.489 INS Zornitza Stark Mode of inheritance for gene: INS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.488 INS Zornitza Stark Classified gene: INS as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.488 INS Zornitza Stark Gene: ins has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.487 INS Zornitza Stark reviewed gene: INS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal, MIM#606176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Marked gene: IMPA1 as ready
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Gene: impa1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.487 IMPA1 Zornitza Stark Phenotypes for gene: IMPA1 were changed from to Mental retardation, autosomal recessive 59, MIM#617323
Intellectual disability syndromic and non-syndromic v0.486 IMPA1 Zornitza Stark Publications for gene: IMPA1 were set to
Intellectual disability syndromic and non-syndromic v0.485 IMPA1 Zornitza Stark Mode of inheritance for gene: IMPA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.484 IMPA1 Zornitza Stark Classified gene: IMPA1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.484 IMPA1 Zornitza Stark Gene: impa1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.483 IMPA1 Zornitza Stark reviewed gene: IMPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26416544, 30616629; Phenotypes: Mental retardation, autosomal recessive 59, MIM#617323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.483 IMMP2L Zornitza Stark Marked gene: IMMP2L as ready
Intellectual disability syndromic and non-syndromic v0.483 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.483 IMMP2L Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.482 IMMP2L Zornitza Stark Publications for gene: IMMP2L were set to
Intellectual disability syndromic and non-syndromic v0.481 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.480 IMMP2L Zornitza Stark Classified gene: IMMP2L as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.480 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.479 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.479 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Intellectual disability syndromic and non-syndromic v0.479 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.479 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489
Intellectual disability syndromic and non-syndromic v0.478 IGF2 Zornitza Stark Publications for gene: IGF2 were set to
Intellectual disability syndromic and non-syndromic v0.477 IGF2 Zornitza Stark Classified gene: IGF2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.477 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.476 IGF2 Zornitza Stark reviewed gene: IGF2: Rating: RED; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.476 IFT27 Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996
Intellectual disability syndromic and non-syndromic v0.475 IFT27 Zornitza Stark Publications for gene: IFT27 were set to
Intellectual disability syndromic and non-syndromic v0.474 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.473 IFT27 Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.473 RNF135 Chirag Patel Classified gene: RNF135 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.473 RNF135 Chirag Patel Added comment: Comment on list classification: d/w Z.Stark - see review
Intellectual disability syndromic and non-syndromic v0.473 RNF135 Chirag Patel Gene: rnf135 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Classified gene: MYMK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Added comment: Comment on list classification: r/v with Dr Stark - not ID gene.
Intellectual disability syndromic and non-syndromic v0.472 MYMK Chirag Patel Gene: mymk has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.471 UQCC2 Chirag Patel changed review comment from: Only 2 patients with mitochondrial disorder reported and they had ID; to: Only 2 patients with mitochondrial disorder reported and they had ID, with some functional evidence.
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Classified gene: UQCRQ as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - one family and no reports >10 years.
Intellectual disability syndromic and non-syndromic v0.471 UQCRQ Chirag Patel Gene: uqcrq has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Classified gene: VPS37A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - 2 families with functional data.
Intellectual disability syndromic and non-syndromic v0.470 VPS37A Chirag Patel Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Classified gene: WASHC4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - single family with limited functional evidence
Intellectual disability syndromic and non-syndromic v0.469 WASHC4 Chirag Patel Gene: washc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Classified gene: WASHC5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Added comment: Comment on list classification: reviewed with Z.Stark - one family with founder mutation
Intellectual disability syndromic and non-syndromic v0.468 WASHC5 Chirag Patel Gene: washc5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Classified gene: ZNF423 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Added comment: Comment on list classification: reviewed with Zornitza stark - single family only.
Intellectual disability syndromic and non-syndromic v0.467 ZNF423 Chirag Patel Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.466 ZNF423 Chirag Patel Classified gene: ZNF423 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.466 ZNF423 Chirag Patel Gene: znf423 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.465 ZNF674 Chirag Patel Classified gene: ZNF674 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.465 ZNF674 Chirag Patel Gene: znf674 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.464 DUOXA2 Zornitza Stark Classified gene: DUOXA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.464 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.463 DUOXA2 Zornitza Stark edited their review of gene: DUOXA2: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.463 GCK Zornitza Stark Classified gene: GCK as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.463 GCK Zornitza Stark Gene: gck has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.462 GCK Zornitza Stark edited their review of gene: GCK: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.462 MYO7A Chirag Patel Classified gene: MYO7A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.462 MYO7A Chirag Patel Gene: myo7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.461 MYO7A Chirag Patel Source Genetic Health Queensland was removed from MYO7A.
Source Expert list was added to MYO7A.
Mode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900
Intellectual disability syndromic and non-syndromic v0.460 MYO7A Chirag Patel reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 11, OMIM #601317, Deafness, autosomal recessive 2, OMIM #600060, Usher syndrome, type 1B, OMIM #276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.460 MYMK Chirag Patel Classified gene: MYMK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.460 MYMK Chirag Patel Gene: mymk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.459 MYMK Chirag Patel Source Genetic Health Queensland was removed from MYMK.
Source Expert list was added to MYMK.
Mode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940
Intellectual disability syndromic and non-syndromic v0.458 MYMK Chirag Patel reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.458 MYH3 Chirag Patel Classified gene: MYH3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.458 MYH3 Chirag Patel Gene: myh3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.457 MYH3 Chirag Patel Source Genetic Health Queensland was removed from MYH3.
Source Expert list was added to MYH3.
Mode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469
Intellectual disability syndromic and non-syndromic v0.456 MYH3 Chirag Patel reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.456 MTPAP Chirag Patel Classified gene: MTPAP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.456 MTPAP Chirag Patel Gene: mtpap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.455 MTPAP Chirag Patel Source Genetic Health Queensland was removed from MTPAP.
Source Expert list was added to MTPAP.
Mode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672
Intellectual disability syndromic and non-syndromic v0.454 MTPAP Chirag Patel reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel edited their review of gene: MTO1: Added comment: ID is seen as part of this mitochondrial disorder - >35 families reported; Changed publications: PMID: 26061759, 29331171, 23929671
Intellectual disability syndromic and non-syndromic v0.454 MTO1 Chirag Patel Source Genetic Health Queensland was removed from MTO1.
Source Expert list was added to MTO1.
Mode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702
Publications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671
Intellectual disability syndromic and non-syndromic v0.453 MTO1 Chirag Patel reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26061759, 29331171; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.453 MTMR2 Chirag Patel Classified gene: MTMR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.453 MTMR2 Chirag Patel Gene: mtmr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.452 MTMR2 Chirag Patel Source Genetic Health Queensland was removed from MTMR2.
Source Expert list was added to MTMR2.
Mode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382
Intellectual disability syndromic and non-syndromic v0.451 MTMR2 Chirag Patel reviewed gene: MTMR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, OMIM #601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.451 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Intellectual disability syndromic and non-syndromic v0.451 IFT140 Zornitza Stark Gene: ift140 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.451 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920
Intellectual disability syndromic and non-syndromic v0.450 IFT140 Zornitza Stark Classified gene: IFT140 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.450 IFT140 Zornitza Stark Gene: ift140 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.449 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.449 MSH6 Chirag Patel Source Genetic Health Queensland was removed from MSH6.
Source Expert list was added to MSH6.
Mode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300
Intellectual disability syndromic and non-syndromic v0.448 MSH6 Chirag Patel Classified gene: MSH6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.448 MSH6 Chirag Patel Gene: msh6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.447 MSH6 Chirag Patel reviewed gene: MSH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350, Mismatch repair cancer syndrome, OMIM #276300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.447 MTM1 Chirag Patel Classified gene: MTM1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.447 MTM1 Chirag Patel Gene: mtm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.446 MTM1 Chirag Patel Source Genetic Health Queensland was removed from MTM1.
Source Expert list was added to MTM1.
Mode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400
Intellectual disability syndromic and non-syndromic v0.445 MTM1 Chirag Patel reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotubular myopathy, X-linked, OMIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.445 MRPS16 Chirag Patel Classified gene: MRPS16 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.445 MRPS16 Chirag Patel Gene: mrps16 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.445 MRPS16 Chirag Patel Classified gene: MRPS16 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.445 MRPS16 Chirag Patel Gene: mrps16 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.444 MRPS16 Chirag Patel Source Genetic Health Queensland was removed from MRPS16.
Source Expert list was added to MRPS16.
Mode of inheritance for gene MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Publications for gene MRPS16 were changed from PubMed: 15505824 to PubMed: 15505824
Intellectual disability syndromic and non-syndromic v0.443 MRPS16 Chirag Patel reviewed gene: MRPS16: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, OMIM #610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.443 MRPL3 Chirag Patel Classified gene: MRPL3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.443 MRPL3 Chirag Patel Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.442 MRPL3 Chirag Patel Source Genetic Health Queensland was removed from MRPL3.
Source Expert list was added to MRPL3.
Mode of inheritance for gene MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Publications for gene MRPL3 were changed from PubMed: 27815843; 21786366 to PubMed: 27815843; 21786366
Intellectual disability syndromic and non-syndromic v0.441 MRPL3 Chirag Patel reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.441 MRAP Chirag Patel Classified gene: MRAP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.441 MRAP Chirag Patel Gene: mrap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.440 MRAP Chirag Patel Source Genetic Health Queensland was removed from MRAP.
Source Expert list was added to MRAP.
Mode of inheritance for gene MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2; OMIM #607398
Intellectual disability syndromic and non-syndromic v0.439 MRAP Chirag Patel reviewed gene: MRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, OMIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.439 MPV17 Chirag Patel Source Genetic Health Queensland was removed from MPV17.
Source Expert list was added to MPV17.
Mode of inheritance for gene MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Publications for gene MPV17 were changed from PMID: 22593919 to PMID: 22593919
Intellectual disability syndromic and non-syndromic v0.438 MPV17 Chirag Patel reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22593919; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.438 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Intellectual disability syndromic and non-syndromic v0.438 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.438 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330
Intellectual disability syndromic and non-syndromic v0.437 IBA57 Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.436 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.436 MPZ Chirag Patel Classified gene: MPZ as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.436 MPZ Chirag Patel Gene: mpz has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.435 MPZ Chirag Patel Source Genetic Health Queensland was removed from MPZ.
Source Expert list was added to MPZ.
Mode of inheritance for gene MPZ was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MPZ were changed from to Various CMT types
Intellectual disability syndromic and non-syndromic v0.434 MPZ Chirag Patel reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various CMT types; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.434 MPDZ Chirag Patel Publications for gene MPDZ were changed from PubMed: 28556411; 23240096 to PubMed: 28556411; 23240096
Intellectual disability syndromic and non-syndromic v0.433 MPDZ Chirag Patel Source Genetic Health Queensland was removed from MPDZ.
Source Expert list was added to MPDZ.
Mode of inheritance for gene MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219
Intellectual disability syndromic and non-syndromic v0.432 MPDZ Chirag Patel reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28556411, 23240096; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM #615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.432 MNX1 Chirag Patel Classified gene: MNX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.432 MNX1 Chirag Patel Gene: mnx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.431 MNX1 Chirag Patel Source Genetic Health Queensland was removed from MNX1.
Source Expert list was added to MNX1.
Mode of inheritance for gene MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MNX1 were changed from to Currarino syndrome; OMIM #176450
Intellectual disability syndromic and non-syndromic v0.430 MNX1 Chirag Patel reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, OMIM #176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.430 MLH1 Chirag Patel Classified gene: MLH1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.430 MLH1 Chirag Patel Gene: mlh1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.429 MLH1 Chirag Patel Source Genetic Health Queensland was removed from MLH1.
Source Expert list was added to MLH1.
Mode of inheritance for gene MLH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were changed from to Mismatch repair cancer syndrome, OMIM #276300; Muir-Torre syndrome, OMIM #158320
Intellectual disability syndromic and non-syndromic v0.428 MLH1 Chirag Patel reviewed gene: MLH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome, OMIM #276300, Muir-Torre syndrome, OMIM #158320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.428 MIR17HG Chirag Patel Source Genetic Health Queensland was removed from MIR17HG.
Source Expert list was added to MIR17HG.
Mode of inheritance for gene MIR17HG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2; OMIM #614326
Publications for gene MIR17HG were changed from PMID: 25391829; 21892160 to PMID: 25391829; 21892160
Intellectual disability syndromic and non-syndromic v0.427 MIR17HG Chirag Patel reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25391829, 21892160; Phenotypes: Feingold syndrome 2, OMIM #614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.427 MID2 Chirag Patel Classified gene: MID2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.427 MID2 Chirag Patel Gene: mid2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.426 MID2 Chirag Patel Source Genetic Health Queensland was removed from MID2.
Source Expert list was added to MID2.
Mode of inheritance for gene MID2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID2 were changed from to ?Mental retardation, X-linked 101; OMIM#300928
Publications for gene MID2 were changed from PubMed: 24115387 to PubMed: 24115387
Intellectual disability syndromic and non-syndromic v0.425 MID2 Chirag Patel reviewed gene: MID2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24115387; Phenotypes: ?Mental retardation, X-linked 101, OMIM#300928; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.425 MGP Chirag Patel Classified gene: MGP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.425 MGP Chirag Patel Gene: mgp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.424 MGP Chirag Patel Source Genetic Health Queensland was removed from MGP.
Source Expert list was added to MGP.
Mode of inheritance for gene MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were changed from to Keutel syndrome; OMIM #245150
Intellectual disability syndromic and non-syndromic v0.423 MGP Chirag Patel reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, OMIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.423 MGME1 Chirag Patel Classified gene: MGME1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.423 MGME1 Chirag Patel Gene: mgme1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.422 MGME1 Chirag Patel Source Genetic Health Queensland was removed from MGME1.
Source Expert list was added to MGME1.
Mode of inheritance for gene MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11; OMIM#615084
Publications for gene MGME1 were changed from PubMed: 23313956 to PubMed: 23313956
Intellectual disability syndromic and non-syndromic v0.421 MGME1 Chirag Patel reviewed gene: MGME1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, OMIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.421 MFN2 Chirag Patel Classified gene: MFN2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.421 MFN2 Chirag Patel Gene: mfn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.420 MFN2 Chirag Patel Source Genetic Health Queensland was removed from MFN2.
Source Expert list was added to MFN2.
Mode of inheritance for gene MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Intellectual disability syndromic and non-syndromic v0.419 MFN2 Chirag Patel reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.419 METTL23 Chirag Patel Source Genetic Health Queensland was removed from METTL23.
Source Expert list was added to METTL23.
Mode of inheritance for gene METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were changed from to Mental retardation, autosomal recessive 44; OMIM#615942
Publications for gene METTL23 were changed from PubMed: 24501276; 24626631 to PubMed: 24501276; 24626631
Intellectual disability syndromic and non-syndromic v0.418 METTL23 Chirag Patel reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24501276, 24626631; Phenotypes: Mental retardation, autosomal recessive 44, OMIM#615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.418 MET Chirag Patel Classified gene: MET as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.418 MET Chirag Patel Gene: met has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.417 MET Chirag Patel Source Genetic Health Queensland was removed from MET.
Source Expert list was added to MET.
Mode of inheritance for gene MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278
Intellectual disability syndromic and non-syndromic v0.416 MET Chirag Patel reviewed gene: MET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal recessive 97, OMIM #616705, {Osteofibrous dysplasia, susceptibility to}, OMIM #607278; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.416 MEGF8 Chirag Patel Source Genetic Health Queensland was removed from MEGF8.
Source Expert list was added to MEGF8.
Mode of inheritance for gene MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome 2; OMIM #614976
Intellectual disability syndromic and non-syndromic v0.415 MEGF8 Chirag Patel reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3993675; Phenotypes: Carpenter syndrome 2, OMIM #614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.415 MCM4 Chirag Patel Classified gene: MCM4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.415 MCM4 Chirag Patel Gene: mcm4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.414 MCM4 Chirag Patel Source Genetic Health Queensland was removed from MCM4.
Source Expert list was added to MCM4.
Mode of inheritance for gene MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were changed from to Immunodeficiency 54; OMIM #609981
Intellectual disability syndromic and non-syndromic v0.413 MCM4 Chirag Patel reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 54, OMIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.413 MARS2 Chirag Patel Classified gene: MARS2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.413 MARS2 Chirag Patel Gene: mars2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.412 MARS2 Chirag Patel Source Genetic Health Queensland was removed from MARS2.
Source Expert list was added to MARS2.
Mode of inheritance for gene MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were changed from to ?Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Publications for gene MARS2 were changed from PMID: 25754315 to PMID: 25754315
Intellectual disability syndromic and non-syndromic v0.411 MARS2 Chirag Patel reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 25754315; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.411 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Intellectual disability syndromic and non-syndromic v0.411 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.411 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM#236680
Intellectual disability syndromic and non-syndromic v0.410 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.409 HYLS1 Zornitza Stark Classified gene: HYLS1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.409 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.408 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM#236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.408 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Intellectual disability syndromic and non-syndromic v0.408 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.408 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM#255800
Intellectual disability syndromic and non-syndromic v0.407 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.406 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.406 MAGT1 Chirag Patel Classified gene: MAGT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.406 MAGT1 Chirag Patel Gene: magt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.405 MAGT1 Chirag Patel Source Genetic Health Queensland was removed from MAGT1.
Source Expert list was added to MAGT1.
Mode of inheritance for gene MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853
Publications for gene MAGT1 were changed from PMID: 31036665 to PMID: 31036665
Intellectual disability syndromic and non-syndromic v0.404 MAGT1 Chirag Patel reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 31036665; Phenotypes: Congenital disorder of glycosylation, type Icc, OMIM #301031, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.404 HOXD10 Zornitza Stark Marked gene: HOXD10 as ready
Intellectual disability syndromic and non-syndromic v0.404 HOXD10 Zornitza Stark Gene: hoxd10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.404 HOXD10 Zornitza Stark Phenotypes for gene: HOXD10 were changed from to Vertical talus, congenital, MIM#192950
Intellectual disability syndromic and non-syndromic v0.403 HOXD10 Zornitza Stark Mode of inheritance for gene: HOXD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.402 HOXD10 Zornitza Stark Classified gene: HOXD10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.402 HOXD10 Zornitza Stark Gene: hoxd10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.401 HOXD10 Zornitza Stark reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertical talus, congenital, MIM#192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.401 ORC4 Chirag Patel Classified gene: ORC4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.401 ORC4 Chirag Patel Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.400 ORC4 Chirag Patel Source Genetic Health Queensland was removed from ORC4.
Source Expert list was added to ORC4.
Mode of inheritance for gene ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2; OMIM #613800
Intellectual disability syndromic and non-syndromic v0.399 ORC4 Chirag Patel reviewed gene: ORC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, OMIM #613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.399 ORC6 Chirag Patel Classified gene: ORC6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.399 ORC6 Chirag Patel Gene: orc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.398 ORC6 Chirag Patel Source Genetic Health Queensland was removed from ORC6.
Source Expert list was added to ORC6.
Mode of inheritance for gene ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3; OMIM #613803
Intellectual disability syndromic and non-syndromic v0.397 ORC6 Chirag Patel reviewed gene: ORC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, OMIM #613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.397 HNMT Zornitza Stark Marked gene: HNMT as ready
Intellectual disability syndromic and non-syndromic v0.397 HNMT Zornitza Stark Gene: hnmt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.397 HNMT Zornitza Stark Phenotypes for gene: HNMT were changed from to Mental retardation, autosomal recessive 51, MIM#616739
Intellectual disability syndromic and non-syndromic v0.396 HNMT Zornitza Stark Publications for gene: HNMT were set to
Intellectual disability syndromic and non-syndromic v0.395 HNMT Zornitza Stark Mode of inheritance for gene: HNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.394 HNMT Zornitza Stark reviewed gene: HNMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26206890, 30744146; Phenotypes: Mental retardation, autosomal recessive 51, MIM#616739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.394 VPS37A Chirag Patel changed review comment from: ID reported in this type of HSP in 2 families.

Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay.; to: ID reported in this type of HSP in 2 families.

Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay. Functional studied performed.
Intellectual disability syndromic and non-syndromic v0.394 HAL Zornitza Stark Marked gene: HAL as ready
Intellectual disability syndromic and non-syndromic v0.394 HAL Zornitza Stark Gene: hal has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.394 HAL Zornitza Stark Phenotypes for gene: HAL were changed from to [Histidinemia], MIM#235800
Intellectual disability syndromic and non-syndromic v0.393 HAL Zornitza Stark Publications for gene: HAL were set to
Intellectual disability syndromic and non-syndromic v0.392 HAL Zornitza Stark Mode of inheritance for gene: HAL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.391 HAL Zornitza Stark Classified gene: HAL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.391 HAL Zornitza Stark Gene: hal has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.390 HAL Zornitza Stark reviewed gene: HAL: Rating: RED; Mode of pathogenicity: None; Publications: 4421298, 7119955; Phenotypes: [Histidinemia], MIM#235800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.390 UCHL1 Chirag Patel Classified gene: UCHL1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.390 UCHL1 Chirag Patel Gene: uchl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.389 UCHL1 Chirag Patel Source Genetic Health Queensland was removed from UCHL1.
Source Expert list was added to UCHL1.
Mode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491
Intellectual disability syndromic and non-syndromic v0.388 UCHL1 Chirag Patel reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM #615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.388 UFM1 Chirag Patel Classified gene: UFM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.388 UFM1 Chirag Patel Gene: ufm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.387 UFM1 Chirag Patel commented on gene: UFM1: 20 families reported with encephalopathy/ID phenotype with functional studies.
Intellectual disability syndromic and non-syndromic v0.387 UFM1 Chirag Patel gene: UFM1 was added
gene: UFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to PubMed: 27545674; 27545681; 28931644
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14; OMIM #617899
Review for gene: UFM1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.386 UGT1A1 Chirag Patel Classified gene: UGT1A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.386 UGT1A1 Chirag Patel Gene: ugt1a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.385 UGT1A1 Chirag Patel Source Genetic Health Queensland was removed from UGT1A1.
Source Expert list was added to UGT1A1.
Mode of inheritance for gene UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I, OMIM #218800; Crigler-Najjar syndrome, type II, OMIM #606785
Intellectual disability syndromic and non-syndromic v0.384 UGT1A1 Chirag Patel reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.384 UNC13D Chirag Patel Classified gene: UNC13D as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.384 UNC13D Chirag Patel Gene: unc13d has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.383 UNC13D Chirag Patel Source Genetic Health Queensland was removed from UNC13D.
Source Expert list was added to UNC13D.
Mode of inheritance for gene UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were changed from to Hemophagocytic lymphohistiocytosis, familial, 3; OMIM #608898
Intellectual disability syndromic and non-syndromic v0.382 UNC13D Chirag Patel reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, OMIM #608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.382 UQCC2 Chirag Patel Source Genetic Health Queensland was removed from UQCC2.
Source Expert list was added to UQCC2.
Mode of inheritance for gene UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7; OMIM #615824
Publications for gene UQCC2 were changed from PubMed: 28804536; 24385928 to PubMed: 28804536; 24385928
Intellectual disability syndromic and non-syndromic v0.381 UQCC2 Chirag Patel Classified gene: UQCC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.381 UQCC2 Chirag Patel Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.380 UQCC2 Chirag Patel reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM #615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.380 UQCRB Chirag Patel Classified gene: UQCRB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.380 UQCRB Chirag Patel Gene: uqcrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.379 UQCRB Chirag Patel Source Genetic Health Queensland was removed from UQCRB.
Source Expert list was added to UQCRB.
Mode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158
Publications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960
Intellectual disability syndromic and non-syndromic v0.378 UQCRB Chirag Patel reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 12709789, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, OMIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.378 UQCRC2 Chirag Patel Source Genetic Health Queensland was removed from UQCRC2.
Source Expert list was added to UQCRC2.
Mode of inheritance for gene UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5; OMIM #615160
Intellectual disability syndromic and non-syndromic v0.377 UQCRC2 Chirag Patel Classified gene: UQCRC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.377 UQCRC2 Chirag Patel Gene: uqcrc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.376 UQCRC2 Chirag Patel reviewed gene: UQCRC2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM #615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.376 UQCRQ Chirag Patel Classified gene: UQCRQ as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.376 UQCRQ Chirag Patel Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.375 UQCRQ Chirag Patel Source Genetic Health Queensland was removed from UQCRQ.
Source Expert list was added to UQCRQ.
Mode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159
Publications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546
Intellectual disability syndromic and non-syndromic v0.374 UQCRQ Chirag Patel reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.374 VAMP1 Chirag Patel Classified gene: VAMP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.374 VAMP1 Chirag Patel Gene: vamp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.373 VAMP1 Chirag Patel reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, OMIM #108600, Myasthenic syndrome, congenital, 25, OMIM #618323; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.373 VAMP1 Chirag Patel Source Genetic Health Queensland was removed from VAMP1.
Source Expert list was added to VAMP1.
Mode of inheritance for gene VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, OMIM #108600; Myasthenic syndrome, congenital, 25, OMIM #618323
Intellectual disability syndromic and non-syndromic v0.372 VANGL1 Chirag Patel Classified gene: VANGL1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.372 VANGL1 Chirag Patel Gene: vangl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.371 VANGL1 Chirag Patel reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Caudal regression syndrome, OMIM #600145, {Neural tube defects, susceptibility to}, OMIM #182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.371 VANGL1 Chirag Patel Source Genetic Health Queensland was removed from VANGL1.
Source Expert list was added to VANGL1.
Mode of inheritance for gene VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, OMIM #600145; {Neural tube defects, susceptibility to}, OMIM #182940
Intellectual disability syndromic and non-syndromic v0.370 VARS2 Chirag Patel Source Genetic Health Queensland was removed from VARS2.
Source Expert list was added to VARS2.
Mode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Publications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel edited their review of gene: VARS2: Added comment: Multiple patients reported with ID, encephalopathy as part of this mitochondrial disorder.; Changed rating: GREEN; Changed publications: PubMed: 24827421, 25058219, 29137650, 29314548, 31064326
Intellectual disability syndromic and non-syndromic v0.369 VARS2 Chirag Patel reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24827421, 25058219,; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.369 VIPAS39 Chirag Patel Source Genetic Health Queensland was removed from VIPAS39.
Source Expert list was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2; OMIM #613404
Publications for gene VIPAS39 were changed from PMID: 20190753 to PMID: 20190753
Intellectual disability syndromic and non-syndromic v0.368 VIPAS39 Chirag Patel reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.368 VPS33B Chirag Patel Source Genetic Health Queensland was removed from VPS33B.
Source Expert list was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085
Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130
Intellectual disability syndromic and non-syndromic v0.367 VPS33B Chirag Patel reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.367 VPS37A Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.367 VPS37A Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.366 VPS37A Chirag Patel Source Genetic Health Queensland was removed from VPS37A.
Source Expert list was added to VPS37A.
Mode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898
Publications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650
Intellectual disability syndromic and non-syndromic v0.365 VPS37A Chirag Patel reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, OMIM #614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.365 VPS45 Chirag Patel Classified gene: VPS45 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.365 VPS45 Chirag Patel Gene: vps45 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.364 VPS45 Chirag Patel Source Genetic Health Queensland was removed from VPS45.
Source Expert list was added to VPS45.
Mode of inheritance for gene VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were changed from to Neutropenia, severe congenital, 5, autosomal recessive; OMIM #615285
Intellectual disability syndromic and non-syndromic v0.363 VPS45 Chirag Patel reviewed gene: VPS45: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, OMIM #615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.363 WASF1 Chirag Patel Classified gene: WASF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.363 WASF1 Chirag Patel Gene: wasf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.362 WASF1 Chirag Patel edited their review of gene: WASF1: Added comment: 5 unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. Functional studies using fibroblast cells from two affected individuals showed a truncated WASF1 and a defect in actin remodeling.; Changed phenotypes: No OMIM phenotype # yet.
Intellectual disability syndromic and non-syndromic v0.362 WASF1 Chirag Patel gene: WASF1 was added
gene: WASF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WASF1 were set to PMID: 29961568
Review for gene: WASF1 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.361 WASHC4 Chirag Patel Classified gene: WASHC4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.361 WASHC4 Chirag Patel Gene: washc4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.360 WASHC4 Chirag Patel Source Genetic Health Queensland was removed from WASHC4.
Source Expert list was added to WASHC4.
Mode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817
Publications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477
Intellectual disability syndromic and non-syndromic v0.359 WASHC4 Chirag Patel reviewed gene: WASHC4: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21498477; Phenotypes: ?Mental retardation, autosomal recessive 43, OMIM #615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.359 WASHC5 Chirag Patel Classified gene: WASHC5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.359 WASHC5 Chirag Patel Gene: washc5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.358 WASHC5 Chirag Patel Source Genetic Health Queensland was removed from WASHC5.
Source Expert list was added to WASHC5.
Mode of inheritance for gene WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were changed from to Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210
Publications for gene WASHC5 were changed from PubMed: 24065355 to PubMed: 24065355
Intellectual disability syndromic and non-syndromic v0.357 WASHC5 Chirag Patel reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24065355; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM #603563, Ritscher-Schinzel syndrome 1, OMIM #220210; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.357 WDR11 Chirag Patel Classified gene: WDR11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.357 WDR11 Chirag Patel Gene: wdr11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.356 WDR11 Chirag Patel reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM #614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.356 WDR13 Chirag Patel Classified gene: WDR13 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.356 WDR13 Chirag Patel Gene: wdr13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.355 WDR13 Chirag Patel reviewed gene: WDR13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.355 WDR19 Chirag Patel Classified gene: WDR19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.355 WDR19 Chirag Patel Gene: wdr19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.355 WDR19 Chirag Patel Classified gene: WDR19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.355 WDR19 Chirag Patel Gene: wdr19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.354 WDR19 Chirag Patel reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.354 WDR19 Chirag Patel Phenotypes for gene: WDR19 were changed from ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307 to ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376; Nephronophthisis 13, OMIM #614377; Senior-Loken syndrome 8, OMIM#616307
Intellectual disability syndromic and non-syndromic v0.353 WDR19 Chirag Patel Source Genetic Health Queensland was removed from WDR19.
Source Expert list was added to WDR19.
Mode of inheritance for gene WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were changed from to ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307
Intellectual disability syndromic and non-syndromic v0.352 WDR34 Chirag Patel Classified gene: WDR34 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.352 WDR34 Chirag Patel Gene: wdr34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.351 WDR34 Chirag Patel Source Genetic Health Queensland was removed from WDR34.
Source Expert list was added to WDR34.
Mode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633
Intellectual disability syndromic and non-syndromic v0.350 WDR34 Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.350 WDR37 Chirag Patel Classified gene: WDR37 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.350 WDR37 Chirag Patel Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.349 WDR37 Chirag Patel commented on gene: WDR37: 9 unrelated patients reported, with functional studies.
Intellectual disability syndromic and non-syndromic v0.349 WDR37 Chirag Patel gene: WDR37 was added
gene: WDR37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to PubMed: 31327508; 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome; OMIM #618652
Review for gene: WDR37 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.348 WNT1 Chirag Patel reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.348 WNT1 Chirag Patel Source Genetic Health Queensland was removed from WNT1.
Source Expert list was added to WNT1.
Mode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220
Intellectual disability syndromic and non-syndromic v0.347 WNT5A Chirag Patel Source Genetic Health Queensland was removed from WNT5A.
Source Expert list was added to WNT5A.
Mode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel Deleted their review
Intellectual disability syndromic and non-syndromic v0.346 WNT5A Chirag Patel reviewed gene: WNT5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.346 WRAP53 Chirag Patel Mode of inheritance for gene WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.345 WRAP53 Chirag Patel Source Genetic Health Queensland was removed from WRAP53.
Source Expert list was added to WRAP53.
Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3; OMIM# 613988
Intellectual disability syndromic and non-syndromic v0.344 WRAP53 Chirag Patel Classified gene: WRAP53 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.344 WRAP53 Chirag Patel Gene: wrap53 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.343 WRAP53 Chirag Patel reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.343 HADHB Zornitza Stark Marked gene: HADHB as ready
Intellectual disability syndromic and non-syndromic v0.343 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.343 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM#609015
Intellectual disability syndromic and non-syndromic v0.342 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.341 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.341 HADH Zornitza Stark Marked gene: HADH as ready
Intellectual disability syndromic and non-syndromic v0.341 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.341 HADH Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Intellectual disability syndromic and non-syndromic v0.340 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.339 HADH Zornitza Stark Classified gene: HADH as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.339 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.338 HADH Zornitza Stark reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.338 H3F3B Zornitza Stark Marked gene: H3F3B as ready
Intellectual disability syndromic and non-syndromic v0.338 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.338 H3F3B Zornitza Stark Classified gene: H3F3B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.338 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Marked gene: H19 as ready
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Phenotypes for gene: H19 were changed from to Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860
Intellectual disability syndromic and non-syndromic v0.336 H19 Zornitza Stark Classified gene: H19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.336 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.335 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM#130650, Silver-Russell syndrome, MIM#180860; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.335 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Intellectual disability syndromic and non-syndromic v0.335 GYS2 Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.335 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver, MIM#240600
Intellectual disability syndromic and non-syndromic v0.334 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.333 GYS2 Zornitza Stark Classified gene: GYS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.333 GYS2 Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.332 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver, MIM#240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.332 GTF2IRD1 Zornitza Stark Marked gene: GTF2IRD1 as ready
Intellectual disability syndromic and non-syndromic v0.332 GTF2IRD1 Zornitza Stark Gene: gtf2ird1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.332 GTF2IRD1 Zornitza Stark Publications for gene: GTF2IRD1 were set to
Intellectual disability syndromic and non-syndromic v0.331 GTF2IRD1 Zornitza Stark Classified gene: GTF2IRD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.331 GTF2IRD1 Zornitza Stark Gene: gtf2ird1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.330 GTF2IRD1 Zornitza Stark reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: None; Publications: 31418010; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.330 GTF2I Zornitza Stark Marked gene: GTF2I as ready
Intellectual disability syndromic and non-syndromic v0.330 GTF2I Zornitza Stark Gene: gtf2i has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.330 GTF2I Zornitza Stark Classified gene: GTF2I as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.330 GTF2I Zornitza Stark Gene: gtf2i has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.329 GTF2I Zornitza Stark reviewed gene: GTF2I: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.329 GSPT2 Zornitza Stark Marked gene: GSPT2 as ready
Intellectual disability syndromic and non-syndromic v0.329 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.329 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to
Intellectual disability syndromic and non-syndromic v0.328 GSPT2 Zornitza Stark Classified gene: GSPT2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.328 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.327 GSPT2 Zornitza Stark reviewed gene: GSPT2: Rating: RED; Mode of pathogenicity: None; Publications: 28414775; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.327 GRPR Zornitza Stark Marked gene: GRPR as ready
Intellectual disability syndromic and non-syndromic v0.327 GRPR Zornitza Stark Gene: grpr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.327 GRPR Zornitza Stark Classified gene: GRPR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.327 GRPR Zornitza Stark Gene: grpr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.326 GRPR Zornitza Stark reviewed gene: GRPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.326 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Intellectual disability syndromic and non-syndromic v0.326 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.326 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM#604213
Intellectual disability syndromic and non-syndromic v0.325 GPSM2 Zornitza Stark Classified gene: GPSM2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.325 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.324 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.324 GPHN Zornitza Stark Marked gene: GPHN as ready
Intellectual disability syndromic and non-syndromic v0.324 GPHN Zornitza Stark Gene: gphn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.324 GPHN Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM#615501
Intellectual disability syndromic and non-syndromic v0.323 GPHN Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.322 GPHN Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.322 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Intellectual disability syndromic and non-syndromic v0.322 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.322 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, MIM#614018
Intellectual disability syndromic and non-syndromic v0.321 GOSR2 Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.320 GOSR2 Zornitza Stark Classified gene: GOSR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.320 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.319 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.319 GORAB Zornitza Stark Marked gene: GORAB as ready
Intellectual disability syndromic and non-syndromic v0.319 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.319 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070
Intellectual disability syndromic and non-syndromic v0.318 GORAB Zornitza Stark Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.317 GORAB Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.317 GNE Zornitza Stark Marked gene: GNE as ready
Intellectual disability syndromic and non-syndromic v0.317 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.317 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Sialuria, MIM#269921
Intellectual disability syndromic and non-syndromic v0.316 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.315 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialuria, MIM#269921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.315 ZNF462 Chirag Patel Classified gene: ZNF462 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.315 ZNF462 Chirag Patel Gene: znf462 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.314 ZNF462 Chirag Patel gene: ZNF462 was added
gene: ZNF462 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610
Phenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome; OMIM# 618619
Review for gene: ZNF462 was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.313 XPA Chirag Patel Source Genetic Health Queensland was removed from XPA.
Source Expert list was added to XPA.
Mode of inheritance for gene XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A; OMIM# 278700
Intellectual disability syndromic and non-syndromic v0.312 XPA Chirag Patel reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.312 XYLT1 Chirag Patel Source Genetic Health Queensland was removed from XYLT1.
Source Expert list was added to XYLT1.
Mode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2; OMIM# 615777
Publications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343
Intellectual disability syndromic and non-syndromic v0.311 XYLT1 Chirag Patel reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.311 ZC3H14 Chirag Patel Classified gene: ZC3H14 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.311 ZC3H14 Chirag Patel Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.310 ZC3H14 Chirag Patel Source Genetic Health Queensland was removed from ZC3H14.
Source Expert list was added to ZC3H14.
Mode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Publications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151
Intellectual disability syndromic and non-syndromic v0.309 ZC3H14 Chirag Patel reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21734151; Phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.309 ZCCHC12 Chirag Patel Classified gene: ZCCHC12 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.309 ZCCHC12 Chirag Patel Gene: zcchc12 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.308 ZCCHC12 Chirag Patel reviewed gene: ZCCHC12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.308 ZDHHC15 Chirag Patel Classified gene: ZDHHC15 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.308 ZDHHC15 Chirag Patel Gene: zdhhc15 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.307 ZDHHC15 Chirag Patel reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.307 ZFP57 Chirag Patel Classified gene: ZFP57 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.307 ZFP57 Chirag Patel Gene: zfp57 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.306 ZFP57 Chirag Patel Source Genetic Health Queensland was removed from ZFP57.
Source Expert list was added to ZFP57.
Mode of inheritance for gene ZFP57 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: ZFP57 were changed from to {Diabetes mellitus, transient neonatal, 1}; OMIM# 601410
Intellectual disability syndromic and non-syndromic v0.305 ZFP57 Chirag Patel reviewed gene: ZFP57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Diabetes mellitus, transient neonatal, 1}, OMIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.305 ZMYM3 Chirag Patel Classified gene: ZMYM3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.305 ZMYM3 Chirag Patel Gene: zmym3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.304 ZMYM3 Chirag Patel reviewed gene: ZMYM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24721225; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.304 ZNF335 Chirag Patel Publications for gene ZNF335 were changed from PubMed: 23178126; 27540107; 29652087 to PubMed: 23178126; 27540107; 29652087
Intellectual disability syndromic and non-syndromic v0.303 ZNF335 Chirag Patel Source Genetic Health Queensland was removed from ZNF335.
Source Expert list was added to ZNF335.
Mode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive; OMIM #615095
Intellectual disability syndromic and non-syndromic v0.302 ZNF335 Chirag Patel reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel changed review comment from: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of 2 other ZNF41 mutations (314995.0001-314995.0002) that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.; to: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14628291, 23871722; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel Classified gene: ZNF41 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.302 ZNF41 Chirag Patel Gene: znf41 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.301 ZNF423 Chirag Patel Marked gene: ZNF423 as ready
Intellectual disability syndromic and non-syndromic v0.301 ZNF423 Chirag Patel Gene: znf423 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.301 ZNF423 Chirag Patel Classified gene: ZNF423 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.301 ZNF423 Chirag Patel Gene: znf423 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.300 ZNF423 Chirag Patel Source Genetic Health Queensland was removed from ZNF423.
Source Expert list was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Publications for gene ZNF423 were changed from PMID: 22863007 to PMID: 22863007
Intellectual disability syndromic and non-syndromic v0.299 ZNF423 Chirag Patel reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.299 ZNF507 Chirag Patel Classified gene: ZNF507 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.299 ZNF507 Chirag Patel Gene: znf507 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.298 ZNF507 Chirag Patel reviewed gene: ZNF507: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.298 ZNF674 Chirag Patel Classified gene: ZNF674 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.298 ZNF674 Chirag Patel Gene: znf674 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.297 ZNF674 Chirag Patel Source Genetic Health Queensland was removed from ZNF674.
Source Expert list was added to ZNF674.
Mode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.296 ZNF674 Chirag Patel reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16385466; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.296 ZNF804A Chirag Patel Classified gene: ZNF804A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.296 ZNF804A Chirag Patel Gene: znf804a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.295 ZNF804A Chirag Patel Source Genetic Health Queensland was removed from ZNF804A.
Source Expert list was added to ZNF804A.
Intellectual disability syndromic and non-syndromic v0.294 ZNF804A Chirag Patel reviewed gene: ZNF804A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.294 ZNHIT6 Chirag Patel Classified gene: ZNHIT6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.294 ZNHIT6 Chirag Patel Gene: znhit6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.293 ZNHIT6 Chirag Patel reviewed gene: ZNHIT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.293 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Intellectual disability syndromic and non-syndromic v0.293 GNAQ Zornitza Stark Gene: gnaq has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.293 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic, MIM#185300
Intellectual disability syndromic and non-syndromic v0.292 GNAQ Zornitza Stark Classified gene: GNAQ as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.292 GNAQ Zornitza Stark Gene: gnaq has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.291 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.291 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Intellectual disability syndromic and non-syndromic v0.291 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.291 GNA14 Zornitza Stark Classified gene: GNA14 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.291 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.290 GNA14 Zornitza Stark reviewed gene: GNA14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.290 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Intellectual disability syndromic and non-syndromic v0.290 GLUD1 Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.290 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM#606762
Intellectual disability syndromic and non-syndromic v0.289 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.288 GLUD1 Zornitza Stark Classified gene: GLUD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.288 GLUD1 Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.287 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.287 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Intellectual disability syndromic and non-syndromic v0.287 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.287 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199
Intellectual disability syndromic and non-syndromic v0.286 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Intellectual disability syndromic and non-syndromic v0.285 GLIS3 Zornitza Stark Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.284 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.284 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Intellectual disability syndromic and non-syndromic v0.284 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.284 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Intellectual disability syndromic and non-syndromic v0.283 GJB1 Zornitza Stark Classified gene: GJB1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.283 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.282 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.282 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Intellectual disability syndromic and non-syndromic v0.282 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.282 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Erythrokeratodermia variabilis et progressiva 3, MIM#617525; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Palmoplantar keratoderma with congenital alopecia, MIM#104100; Syndactyly, type III, MIM# 186100
Intellectual disability syndromic and non-syndromic v0.281 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.280 GJA1 Zornitza Stark Classified gene: GJA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.280 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.279 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.279 GHR Zornitza Stark Marked gene: GHR as ready
Intellectual disability syndromic and non-syndromic v0.279 GHR Zornitza Stark Gene: ghr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.279 GHR Zornitza Stark Phenotypes for gene: GHR were changed from to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500
Intellectual disability syndromic and non-syndromic v0.278 GHR Zornitza Stark Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.277 GHR Zornitza Stark Classified gene: GHR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.277 GHR Zornitza Stark Gene: ghr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.276 GHR Zornitza Stark reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.276 GCSH Zornitza Stark Marked gene: GCSH as ready
Intellectual disability syndromic and non-syndromic v0.276 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.276 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy, MIM#605899
Intellectual disability syndromic and non-syndromic v0.275 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899
Intellectual disability syndromic and non-syndromic v0.274 GCSH Zornitza Stark Publications for gene: GCSH were set to
Intellectual disability syndromic and non-syndromic v0.273 GCSH Zornitza Stark Classified gene: GCSH as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.273 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.272 GCSH Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.272 GCK Zornitza Stark Marked gene: GCK as ready
Intellectual disability syndromic and non-syndromic v0.272 GCK Zornitza Stark Gene: gck has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.272 GCK Zornitza Stark Phenotypes for gene: GCK were changed from to Diabetes mellitus, permanent neonatal 606176
Intellectual disability syndromic and non-syndromic v0.271 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.270 GCK Zornitza Stark Classified gene: GCK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.270 GCK Zornitza Stark Gene: gck has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.269 GCK Zornitza Stark reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 606176; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.269 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Intellectual disability syndromic and non-syndromic v0.269 GBE1 Zornitza Stark Gene: gbe1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.269 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM#232500
Intellectual disability syndromic and non-syndromic v0.268 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.267 GBE1 Zornitza Stark Classified gene: GBE1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.267 GBE1 Zornitza Stark Gene: gbe1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.266 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.266 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Intellectual disability syndromic and non-syndromic v0.266 GBA2 Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.266 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM#614409
Intellectual disability syndromic and non-syndromic v0.265 GBA2 Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.264 GBA2 Zornitza Stark Classified gene: GBA2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.264 GBA2 Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.263 GBA2 Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.263 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Intellectual disability syndromic and non-syndromic v0.263 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.263 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from to Pancreatic agenesis and congenital heart defects, MIM#600001
Intellectual disability syndromic and non-syndromic v0.262 GATA6 Zornitza Stark Publications for gene: GATA6 were set to
Intellectual disability syndromic and non-syndromic v0.261 GATA6 Zornitza Stark Mode of inheritance for gene: GATA6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.260 GATA6 Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.260 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Intellectual disability syndromic and non-syndromic v0.260 GATA1 Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.260 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.259 GATA1 Zornitza Stark Classified gene: GATA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.259 GATA1 Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.258 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM#314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.258 GALT Zornitza Stark Marked gene: GALT as ready
Intellectual disability syndromic and non-syndromic v0.258 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.258 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosemia, MIM#230400
Intellectual disability syndromic and non-syndromic v0.257 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.256 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.256 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Intellectual disability syndromic and non-syndromic v0.256 GAD1 Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.256 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513
Intellectual disability syndromic and non-syndromic v0.255 GAD1 Zornitza Stark Publications for gene: GAD1 were set to
Intellectual disability syndromic and non-syndromic v0.254 GAD1 Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.253 GAD1 Zornitza Stark Classified gene: GAD1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.253 GAD1 Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.252 GAD1 Zornitza Stark reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.252 GABRG1 Zornitza Stark Marked gene: GABRG1 as ready
Intellectual disability syndromic and non-syndromic v0.252 GABRG1 Zornitza Stark Gene: gabrg1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.252 GABRG1 Zornitza Stark Classified gene: GABRG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.252 GABRG1 Zornitza Stark Gene: gabrg1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.251 GABRG1 Zornitza Stark reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.251 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Intellectual disability syndromic and non-syndromic v0.251 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.251 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.251 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.250 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005
Review for gene: FUT8 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.249 FTL Zornitza Stark Marked gene: FTL as ready
Intellectual disability syndromic and non-syndromic v0.249 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.249 FTL Zornitza Stark Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM#606159; Hyperferritinemia-cataract syndrome, MIM#600886; L-ferritin deficiency, dominant and recessive, MIM#615604
Intellectual disability syndromic and non-syndromic v0.248 FTL Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.247 FTL Zornitza Stark Classified gene: FTL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.247 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.246 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.246 FRMPD4 Zornitza Stark Marked gene: FRMPD4 as ready
Intellectual disability syndromic and non-syndromic v0.246 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.246 FRMPD4 Zornitza Stark Phenotypes for gene: FRMPD4 were changed from to Mental retardation, X-linked 104, MIM#300983
Intellectual disability syndromic and non-syndromic v0.245 FRMPD4 Zornitza Stark Publications for gene: FRMPD4 were set to
Intellectual disability syndromic and non-syndromic v0.244 FRMPD4 Zornitza Stark Mode of inheritance for gene: FRMPD4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.243 FRMPD4 Zornitza Stark reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 29267967; Phenotypes: Mental retardation, X-linked 104, MIM#300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.243 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Intellectual disability syndromic and non-syndromic v0.243 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.243 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000
Intellectual disability syndromic and non-syndromic v0.242 FRAS1 Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.241 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.241 FLVCR1 Zornitza Stark Marked gene: FLVCR1 as ready
Intellectual disability syndromic and non-syndromic v0.241 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.241 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Intellectual disability syndromic and non-syndromic v0.240 FLVCR1 Zornitza Stark Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.239 FLVCR1 Zornitza Stark Classified gene: FLVCR1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.239 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.238 FLVCR1 Zornitza Stark reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.238 FLNB Zornitza Stark Marked gene: FLNB as ready
Intellectual disability syndromic and non-syndromic v0.238 FLNB Zornitza Stark Gene: flnb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.238 FLNB Zornitza Stark Phenotypes for gene: FLNB were changed from to Larsen syndrome, MIM#150250
Intellectual disability syndromic and non-syndromic v0.237 FLNB Zornitza Stark Mode of inheritance for gene: FLNB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.236 FLNB Zornitza Stark Classified gene: FLNB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.236 FLNB Zornitza Stark Gene: flnb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.235 FLNB Zornitza Stark reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.235 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Intellectual disability syndromic and non-syndromic v0.235 FGF3 Zornitza Stark Gene: fgf3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.235 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Intellectual disability syndromic and non-syndromic v0.234 FGF3 Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.233 FGF3 Zornitza Stark Classified gene: FGF3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.233 FGF3 Zornitza Stark Gene: fgf3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.232 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.232 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Intellectual disability syndromic and non-syndromic v0.232 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.232 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.232 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.231 FDFT1 Zornitza Stark gene: FDFT1 was added
gene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156
Review for gene: FDFT1 was set to GREEN
Added comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association..
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.230 FBXO31 Zornitza Stark Marked gene: FBXO31 as ready
Intellectual disability syndromic and non-syndromic v0.230 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.230 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from to Mental retardation, autosomal recessive 45, MIM#615979
Intellectual disability syndromic and non-syndromic v0.229 FBXO31 Zornitza Stark Publications for gene: FBXO31 were set to
Intellectual disability syndromic and non-syndromic v0.228 FBXO31 Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.227 FBXO31 Zornitza Stark Classified gene: FBXO31 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.227 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.226 FBXO31 Zornitza Stark reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.226 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Intellectual disability syndromic and non-syndromic v0.226 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.226 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM#154700; Geleophysic dysplasia 2, MIM#614185; Weill-Marchesani syndrome 2, dominant, MIM#608328
Intellectual disability syndromic and non-syndromic v0.225 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.224 FBN1 Zornitza Stark Classified gene: FBN1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.224 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.223 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.223 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Intellectual disability syndromic and non-syndromic v0.223 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.223 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100
Intellectual disability syndromic and non-syndromic v0.222 FBLN5 Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.221 FBLN5 Zornitza Stark Classified gene: FBLN5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.221 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.220 FBLN5 Zornitza Stark reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.220 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Intellectual disability syndromic and non-syndromic v0.220 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.220 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Intellectual disability syndromic and non-syndromic v0.219 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Intellectual disability syndromic and non-syndromic v0.218 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.217 FASTKD2 Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.217 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.216 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.216 FARS2 Zornitza Stark Phenotypes for gene: FARS2 were changed from to Combined oxidative phosphorylation deficiency 14, MIM#614946
Intellectual disability syndromic and non-syndromic v0.215 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Intellectual disability syndromic and non-syndromic v0.214 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.213 FARS2 Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.213 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Intellectual disability syndromic and non-syndromic v0.213 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.213 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anemia, complementation group D2, MIM# 227646
Intellectual disability syndromic and non-syndromic v0.212 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.211 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.211 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Intellectual disability syndromic and non-syndromic v0.211 EDNRB Zornitza Stark Gene: ednrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.211 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM#277580
Intellectual disability syndromic and non-syndromic v0.210 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.209 EDNRB Zornitza Stark Classified gene: EDNRB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.209 EDNRB Zornitza Stark Gene: ednrb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.208 FAAH2 Zornitza Stark Marked gene: FAAH2 as ready
Intellectual disability syndromic and non-syndromic v0.208 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.208 FAAH2 Zornitza Stark Phenotypes for gene: FAAH2 were changed from to Neuropsychiatric disorder
Intellectual disability syndromic and non-syndromic v0.207 FAAH2 Zornitza Stark Publications for gene: FAAH2 were set to
Intellectual disability syndromic and non-syndromic v0.206 FAAH2 Zornitza Stark Mode of inheritance for gene: FAAH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.205 FAAH2 Zornitza Stark Classified gene: FAAH2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.205 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.204 FAAH2 Zornitza Stark reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.204 FA2H Zornitza Stark Marked gene: FA2H as ready
Intellectual disability syndromic and non-syndromic v0.204 FA2H Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.204 FA2H Zornitza Stark Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM#612319
Intellectual disability syndromic and non-syndromic v0.203 FA2H Zornitza Stark Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.202 FA2H Zornitza Stark Classified gene: FA2H as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.202 FA2H Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.201 FA2H Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.201 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Intellectual disability syndromic and non-syndromic v0.201 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.201 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Intellectual disability syndromic and non-syndromic v0.200 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.199 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.199 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Intellectual disability syndromic and non-syndromic v0.199 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.199 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM#616081
Intellectual disability syndromic and non-syndromic v0.198 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Intellectual disability syndromic and non-syndromic v0.197 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.196 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451, 29656927; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM#616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.196 EXOSC2 Zornitza Stark Marked gene: EXOSC2 as ready
Intellectual disability syndromic and non-syndromic v0.196 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.196 EXOSC2 Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.196 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.195 EXOSC2 Zornitza Stark gene: EXOSC2 was added
gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 26843489; 31628467
Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Review for gene: EXOSC2 was set to GREEN
Added comment: Three individuals from two families, but founder mutation, some functional data.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.194 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680
Intellectual disability syndromic and non-syndromic v0.193 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.192 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.192 ETFB Zornitza Stark Marked gene: ETFB as ready
Intellectual disability syndromic and non-syndromic v0.192 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.192 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM#231680
Intellectual disability syndromic and non-syndromic v0.191 ETFB Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.190 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.190 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM#231680
Intellectual disability syndromic and non-syndromic v0.189 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.188 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.188 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Intellectual disability syndromic and non-syndromic v0.188 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.188 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome, MIM#225500
Intellectual disability syndromic and non-syndromic v0.187 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.186 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.186 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.185 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.185 EVC Zornitza Stark Marked gene: EVC as ready
Intellectual disability syndromic and non-syndromic v0.185 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.185 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500
Intellectual disability syndromic and non-syndromic v0.184 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.183 EVC Zornitza Stark Classified gene: EVC as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.183 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.182 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.182 ERMARD Zornitza Stark Marked gene: ERMARD as ready
Intellectual disability syndromic and non-syndromic v0.182 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.182 ERMARD Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544
Intellectual disability syndromic and non-syndromic v0.181 ERMARD Zornitza Stark Publications for gene: ERMARD were set to
Intellectual disability syndromic and non-syndromic v0.180 ERMARD Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.179 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.179 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.178 ERMARD Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.178 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from to Spastic paraplegia 18, autosomal recessive, MIM#611225
Intellectual disability syndromic and non-syndromic v0.177 ERLIN2 Zornitza Stark Mode of inheritance for gene: ERLIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.176 ERLIN2 Zornitza Stark reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, MIM#611225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.176 ERF Zornitza Stark Marked gene: ERF as ready
Intellectual disability syndromic and non-syndromic v0.176 ERF Zornitza Stark Gene: erf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.176 ERF Zornitza Stark Phenotypes for gene: ERF were changed from to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775
Intellectual disability syndromic and non-syndromic v0.175 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.174 ERF Zornitza Stark Classified gene: ERF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.174 ERF Zornitza Stark Gene: erf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.173 ERF Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chitayat syndrome, MIM#617180, Craniosynostosis 4, MIM#600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.173 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Intellectual disability syndromic and non-syndromic v0.173 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.173 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Xeroderma pigmentosum, group F, MIM#278760; XFE progeroid syndrome, MIM# 610965
Intellectual disability syndromic and non-syndromic v0.172 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.171 ERCC4 Zornitza Stark Classified gene: ERCC4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.171 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.170 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.170 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Intellectual disability syndromic and non-syndromic v0.170 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.170 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from to Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780
Intellectual disability syndromic and non-syndromic v0.169 EPM2A Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.168 EPM2A Zornitza Stark Classified gene: EPM2A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.168 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.167 EPM2A Zornitza Stark edited their review of gene: EPM2A: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.167 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.167 EOMES Zornitza Stark Marked gene: EOMES as ready
Intellectual disability syndromic and non-syndromic v0.167 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.167 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly
Intellectual disability syndromic and non-syndromic v0.166 EOMES Zornitza Stark Publications for gene: EOMES were set to
Intellectual disability syndromic and non-syndromic v0.165 EOMES Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.164 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.164 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.163 EOMES Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.163 EOGT Zornitza Stark Marked gene: EOGT as ready
Intellectual disability syndromic and non-syndromic v0.163 EOGT Zornitza Stark Gene: eogt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.163 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297
Intellectual disability syndromic and non-syndromic v0.162 EOGT Zornitza Stark Publications for gene: EOGT were set to
Intellectual disability syndromic and non-syndromic v0.161 EOGT Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.160 EOGT Zornitza Stark Classified gene: EOGT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.160 EOGT Zornitza Stark Gene: eogt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.159 EOGT Zornitza Stark reviewed gene: EOGT: Rating: RED; Mode of pathogenicity: None; Publications: 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.159 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.158 EIF2B5 Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.157 EIF2B5 Zornitza Stark Classified gene: EIF2B5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.157 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.156 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.156 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Intellectual disability syndromic and non-syndromic v0.156 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.156 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.155 EIF2B4 Zornitza Stark Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.154 EIF2B4 Zornitza Stark Classified gene: EIF2B4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.154 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.153 EIF2B4 Zornitza Stark reviewed gene: EIF2B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.153 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Intellectual disability syndromic and non-syndromic v0.153 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.153 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.152 EIF2B3 Zornitza Stark Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.151 EIF2B3 Zornitza Stark Classified gene: EIF2B3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.151 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.150 EIF2B3 Zornitza Stark reviewed gene: EIF2B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.150 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Intellectual disability syndromic and non-syndromic v0.150 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.150 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.149 EIF2B2 Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.148 EIF2B2 Zornitza Stark Classified gene: EIF2B2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.148 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.147 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.147 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Intellectual disability syndromic and non-syndromic v0.147 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.147 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896
Intellectual disability syndromic and non-syndromic v0.146 EIF2B1 Zornitza Stark Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.145 EIF2B1 Zornitza Stark Classified gene: EIF2B1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.145 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.144 EIF2B1 Zornitza Stark reviewed gene: EIF2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.144 EFNB2 Zornitza Stark Marked gene: EFNB2 as ready
Intellectual disability syndromic and non-syndromic v0.144 EFNB2 Zornitza Stark Gene: efnb2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.144 EFNB2 Zornitza Stark Phenotypes for gene: EFNB2 were changed from to Intellectual disability and congenital abnormalities
Intellectual disability syndromic and non-syndromic v0.143 EFNB2 Zornitza Stark Publications for gene: EFNB2 were set to
Intellectual disability syndromic and non-syndromic v0.142 EFNB2 Zornitza Stark Mode of inheritance for gene: EFNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.141 EFNB2 Zornitza Stark Classified gene: EFNB2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.141 EFNB2 Zornitza Stark Gene: efnb2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.140 EFNB2 Zornitza Stark reviewed gene: EFNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29508392; Phenotypes: Intellectual disability and congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.140 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM#277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.140 EARS2 Zornitza Stark Marked gene: EARS2 as ready
Intellectual disability syndromic and non-syndromic v0.140 EARS2 Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.140 EARS2 Zornitza Stark Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, MIM#614924
Intellectual disability syndromic and non-syndromic v0.139 EARS2 Zornitza Stark Publications for gene: EARS2 were set to
Intellectual disability syndromic and non-syndromic v0.138 EARS2 Zornitza Stark Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.137 EARS2 Zornitza Stark reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.137 CLIP2 Zornitza Stark Marked gene: CLIP2 as ready
Intellectual disability syndromic and non-syndromic v0.137 CLIP2 Zornitza Stark Gene: clip2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.137 CLIP2 Zornitza Stark Phenotypes for gene: CLIP2 were changed from Intellectual disability; SCA to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.136 CLIP2 Zornitza Stark Phenotypes for gene: CLIP2 were changed from to Intellectual disability; SCA
Intellectual disability syndromic and non-syndromic v0.135 CLIP2 Zornitza Stark Publications for gene: CLIP2 were set to
Intellectual disability syndromic and non-syndromic v0.134 CLIP2 Zornitza Stark Mode of inheritance for gene: CLIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.133 CLIP2 Zornitza Stark Classified gene: CLIP2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.133 CLIP2 Zornitza Stark Gene: clip2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.132 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Intellectual disability syndromic and non-syndromic v0.132 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.132 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091
Intellectual disability syndromic and non-syndromic v0.131 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.130 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.130 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.129 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.129 DYM Zornitza Stark Marked gene: DYM as ready
Intellectual disability syndromic and non-syndromic v0.129 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.129 DYM Zornitza Stark Phenotypes for gene: DYM were changed from to Dyggve-Melchior-Clausen disease, MIM#223800
Intellectual disability syndromic and non-syndromic v0.128 DYM Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.127 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.127 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Intellectual disability syndromic and non-syndromic v0.127 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.127 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5, MIM#274900
Intellectual disability syndromic and non-syndromic v0.126 DUOXA2 Zornitza Stark Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.125 DUOXA2 Zornitza Stark Classified gene: DUOXA2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.125 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.124 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.124 DSE Zornitza Stark Marked gene: DSE as ready
Intellectual disability syndromic and non-syndromic v0.124 DSE Zornitza Stark Gene: dse has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.124 DSE Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539
Intellectual disability syndromic and non-syndromic v0.123 DSE Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.122 DSE Zornitza Stark Classified gene: DSE as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.122 DSE Zornitza Stark Gene: dse has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.121 DSE Zornitza Stark reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.121 DPYS Zornitza Stark Marked gene: DPYS as ready
Intellectual disability syndromic and non-syndromic v0.121 DPYS Zornitza Stark Gene: dpys has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.121 DPYS Zornitza Stark Phenotypes for gene: DPYS were changed from to Dihydropyrimidinuria, MIM#222748
Intellectual disability syndromic and non-syndromic v0.120 DPYS Zornitza Stark Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.119 DPYS Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.119 DPP10 Zornitza Stark Marked gene: DPP10 as ready
Intellectual disability syndromic and non-syndromic v0.119 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.119 DPP10 Zornitza Stark Publications for gene: DPP10 were set to
Intellectual disability syndromic and non-syndromic v0.118 DPP10 Zornitza Stark Classified gene: DPP10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.118 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.117 DPP10 Zornitza Stark reviewed gene: DPP10: Rating: RED; Mode of pathogenicity: None; Publications: 28670437; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.117 DPH1 Zornitza Stark Marked gene: DPH1 as ready
Intellectual disability syndromic and non-syndromic v0.117 DPH1 Zornitza Stark Gene: dph1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.117 DPH1 Zornitza Stark Phenotypes for gene: DPH1 were changed from to Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901
Intellectual disability syndromic and non-syndromic v0.116 DPH1 Zornitza Stark Publications for gene: DPH1 were set to
Intellectual disability syndromic and non-syndromic v0.115 DPH1 Zornitza Stark Mode of inheritance for gene: DPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.114 DPH1 Zornitza Stark reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 26220823; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.114 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Intellectual disability syndromic and non-syndromic v0.114 DOK7 Zornitza Stark Gene: dok7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.114 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Myasthenic syndrome, congenital, 10, MIM#254300
Intellectual disability syndromic and non-syndromic v0.113 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.112 DOK7 Zornitza Stark Classified gene: DOK7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.112 DOK7 Zornitza Stark Gene: dok7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.111 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM#254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.111 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Intellectual disability syndromic and non-syndromic v0.111 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.111 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219
Intellectual disability syndromic and non-syndromic v0.110 DOCK6 Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.109 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.109 DOCK4 Zornitza Stark Marked gene: DOCK4 as ready
Intellectual disability syndromic and non-syndromic v0.109 DOCK4 Zornitza Stark Gene: dock4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.109 DOCK4 Zornitza Stark Classified gene: DOCK4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.109 DOCK4 Zornitza Stark Gene: dock4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.108 DOCK4 Zornitza Stark reviewed gene: DOCK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.108 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Intellectual disability syndromic and non-syndromic v0.108 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.108 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388
Intellectual disability syndromic and non-syndromic v0.107 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.106 DNM1L Zornitza Stark reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.106 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Intellectual disability syndromic and non-syndromic v0.106 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.106 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19a, juvenile-onset, MIM#615528
Intellectual disability syndromic and non-syndromic v0.105 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.104 DNAJC6 Zornitza Stark Classified gene: DNAJC6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.104 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.103 DNAJC6 Zornitza Stark reviewed gene: DNAJC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.102 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.101 DMPK Zornitza Stark Marked gene: DMPK as ready
Intellectual disability syndromic and non-syndromic v0.101 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.101 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, MIM#160900
Intellectual disability syndromic and non-syndromic v0.100 DMPK Zornitza Stark Mode of inheritance for gene: DMPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.99 DMPK Zornitza Stark reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM#160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.99 DLK1 Zornitza Stark Marked gene: DLK1 as ready
Intellectual disability syndromic and non-syndromic v0.99 DLK1 Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.99 DLK1 Zornitza Stark Classified gene: DLK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.99 DLK1 Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.98 DLK1 Zornitza Stark reviewed gene: DLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.98 DLGAP2 Zornitza Stark Marked gene: DLGAP2 as ready
Intellectual disability syndromic and non-syndromic v0.98 DLGAP2 Zornitza Stark Gene: dlgap2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.98 DLGAP2 Zornitza Stark Classified gene: DLGAP2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.98 DLGAP2 Zornitza Stark Gene: dlgap2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.97 DLGAP2 Zornitza Stark reviewed gene: DLGAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.97 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Intellectual disability syndromic and non-syndromic v0.97 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.97 DLG4 Zornitza Stark Classified gene: DLG4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.97 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.96 DLG4 Zornitza Stark reviewed gene: DLG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.96 DLAT Zornitza Stark Marked gene: DLAT as ready
Intellectual disability syndromic and non-syndromic v0.96 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.96 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM#245348
Intellectual disability syndromic and non-syndromic v0.95 DLAT Zornitza Stark Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.94 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.94 DISP1 Zornitza Stark Marked gene: DISP1 as ready
Intellectual disability syndromic and non-syndromic v0.94 DISP1 Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.94 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from to Holoprosencephaly
Intellectual disability syndromic and non-syndromic v0.93 DISP1 Zornitza Stark Publications for gene: DISP1 were set to
Intellectual disability syndromic and non-syndromic v0.92 DISP1 Zornitza Stark Classified gene: DISP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.92 DISP1 Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.91 DISP1 Zornitza Stark reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.91 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Intellectual disability syndromic and non-syndromic v0.91 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.91 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V, MIM#174300
Intellectual disability syndromic and non-syndromic v0.90 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Intellectual disability syndromic and non-syndromic v0.89 DDX59 Zornitza Stark commented on gene: DDX59: Some affected individuals are reported as having ID.
Intellectual disability syndromic and non-syndromic v0.89 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741, 23972372, 29127725; Phenotypes: Orofaciodigital syndrome V, MIM#174300; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.89 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Intellectual disability syndromic and non-syndromic v0.89 DDR2 Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.89 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Warburg-Cinotti syndrome, MIM#618175, AD; Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR
Intellectual disability syndromic and non-syndromic v0.88 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.87 DDR2 Zornitza Stark Classified gene: DDR2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.87 DDR2 Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.86 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg-Cinotti syndrome, MIM#618175, AD, Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.86 DDB1 Zornitza Stark Marked gene: DDB1 as ready
Intellectual disability syndromic and non-syndromic v0.86 DDB1 Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.86 DDB1 Zornitza Stark Classified gene: DDB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.86 DDB1 Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.85 DDB1 Zornitza Stark gene: DDB1 was added
gene: DDB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Research
Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DDB1 were set to Syndromic intellectual disability
Review for gene: DDB1 was set to GREEN
Added comment: High quality unpublished evidence.
Sources: Research
Intellectual disability syndromic and non-syndromic v0.84 CNTN4 Zornitza Stark Marked gene: CNTN4 as ready
Intellectual disability syndromic and non-syndromic v0.84 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.84 CNTN4 Zornitza Stark Phenotypes for gene: CNTN4 were changed from to Intellectual disability; SCA
Intellectual disability syndromic and non-syndromic v0.83 CNTN4 Zornitza Stark Publications for gene: CNTN4 were set to
Intellectual disability syndromic and non-syndromic v0.82 CNTN4 Zornitza Stark Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.81 CNTN4 Zornitza Stark Classified gene: CNTN4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.81 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.80 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Intellectual disability syndromic and non-syndromic v0.80 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.80 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030
Intellectual disability syndromic and non-syndromic v0.79 CYP2U1 Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.78 CYP2U1 Zornitza Stark Classified gene: CYP2U1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.78 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.77 CYP2U1 Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.77 CYFIP1 Zornitza Stark Marked gene: CYFIP1 as ready
Intellectual disability syndromic and non-syndromic v0.77 CYFIP1 Zornitza Stark Gene: cyfip1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.77 CYFIP1 Zornitza Stark Classified gene: CYFIP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.77 CYFIP1 Zornitza Stark Gene: cyfip1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.76 CYFIP1 Zornitza Stark reviewed gene: CYFIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.76 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Intellectual disability syndromic and non-syndromic v0.76 CUX2 Zornitza Stark Gene: cux2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.76 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141
Intellectual disability syndromic and non-syndromic v0.75 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Intellectual disability syndromic and non-syndromic v0.74 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.73 CUX2 Zornitza Stark reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29630738, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.73 CUBN Zornitza Stark Marked gene: CUBN as ready
Intellectual disability syndromic and non-syndromic v0.73 CUBN Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.73 CUBN Zornitza Stark Phenotypes for gene: CUBN were changed from to Megaloblastic anemia-1, Finnish type, MIM#261100; Proteinuria
Intellectual disability syndromic and non-syndromic v0.72 CUBN Zornitza Stark Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.71 CUBN Zornitza Stark Classified gene: CUBN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.71 CUBN Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.70 CUBN Zornitza Stark reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, MIM#261100, Proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.70 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Intellectual disability syndromic and non-syndromic v0.70 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.70 CTU2 Zornitza Stark Classified gene: CTU2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.70 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.69 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 27480277; 26633546
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Review for gene: CTU2 was set to GREEN
Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.68 CTSF Zornitza Stark Marked gene: CTSF as ready
Intellectual disability syndromic and non-syndromic v0.68 CTSF Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.68 CTSF Zornitza Stark Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362
Intellectual disability syndromic and non-syndromic v0.67 CTSF Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.66 CTSF Zornitza Stark Classified gene: CTSF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.66 CTSF Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.65 CTSF Zornitza Stark reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.65 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Intellectual disability syndromic and non-syndromic v0.65 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.65 CTNNA2 Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.65 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.64 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, severe ID as part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.63 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Intellectual disability syndromic and non-syndromic v0.63 CRTAP Zornitza Stark Gene: crtap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.63 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII, MIM#610682
Intellectual disability syndromic and non-syndromic v0.62 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.61 CRTAP Zornitza Stark Classified gene: CRTAP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.61 CRTAP Zornitza Stark Gene: crtap has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.60 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.60 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
Intellectual disability syndromic and non-syndromic v0.60 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.60 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430
Intellectual disability syndromic and non-syndromic v0.59 CRLF1 Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.58 CRLF1 Zornitza Stark Classified gene: CRLF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.58 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.57 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.57 CRKL Zornitza Stark Marked gene: CRKL as ready
Intellectual disability syndromic and non-syndromic v0.57 CRKL Zornitza Stark Gene: crkl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.57 CRKL Zornitza Stark Publications for gene: CRKL were set to
Intellectual disability syndromic and non-syndromic v0.56 CRKL Zornitza Stark Mode of inheritance for gene: CRKL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.55 CRKL Zornitza Stark Classified gene: CRKL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.55 CRKL Zornitza Stark Gene: crkl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.54 CRKL Zornitza Stark reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: None; Publications: 28121514, 25565927; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.54 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Intellectual disability syndromic and non-syndromic v0.54 CPA6 Zornitza Stark Gene: cpa6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.54 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Intellectual disability syndromic and non-syndromic v0.53 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Intellectual disability syndromic and non-syndromic v0.52 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.51 CPA6 Zornitza Stark Classified gene: CPA6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.51 CPA6 Zornitza Stark Gene: cpa6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.50 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.50 CP Zornitza Stark Marked gene: CP as ready
Intellectual disability syndromic and non-syndromic v0.50 CP Zornitza Stark Gene: cp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.50 CP Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290
Intellectual disability syndromic and non-syndromic v0.49 CP Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.48 CP Zornitza Stark Classified gene: CP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.48 CP Zornitza Stark Gene: cp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.47 CP Zornitza Stark reviewed gene: CP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.47 COX7B Zornitza Stark Marked gene: COX7B as ready
Intellectual disability syndromic and non-syndromic v0.47 COX7B Zornitza Stark Gene: cox7b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.47 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Intellectual disability syndromic and non-syndromic v0.46 COX7B Zornitza Stark Publications for gene: COX7B were set to
Intellectual disability syndromic and non-syndromic v0.45 COX7B Zornitza Stark Classified gene: COX7B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.45 COX7B Zornitza Stark Gene: cox7b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.44 COX7B Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.44 COX4I2 Zornitza Stark Marked gene: COX4I2 as ready
Intellectual disability syndromic and non-syndromic v0.44 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.44 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Intellectual disability syndromic and non-syndromic v0.43 COX4I2 Zornitza Stark Publications for gene: COX4I2 were set to
Intellectual disability syndromic and non-syndromic v0.42 COX4I2 Zornitza Stark Classified gene: COX4I2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.42 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.41 COX4I2 Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.41 COX20 Zornitza Stark Marked gene: COX20 as ready
Intellectual disability syndromic and non-syndromic v0.41 COX20 Zornitza Stark Gene: cox20 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.41 COX20 Zornitza Stark Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Intellectual disability syndromic and non-syndromic v0.40 COX20 Zornitza Stark Publications for gene: COX20 were set to
Intellectual disability syndromic and non-syndromic v0.39 COX20 Zornitza Stark Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.38 COX20 Zornitza Stark Classified gene: COX20 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.38 COX20 Zornitza Stark Gene: cox20 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.37 COX20 Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: 31079202, 30656193, 24202787; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.37 COX14 Zornitza Stark Marked gene: COX14 as ready
Intellectual disability syndromic and non-syndromic v0.37 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.37 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Intellectual disability syndromic and non-syndromic v0.36 COX14 Zornitza Stark Publications for gene: COX14 were set to
Intellectual disability syndromic and non-syndromic v0.35 COX14 Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.34 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.34 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.33 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.33 CORO1A Zornitza Stark Marked gene: CORO1A as ready
Intellectual disability syndromic and non-syndromic v0.33 CORO1A Zornitza Stark Gene: coro1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.33 CORO1A Zornitza Stark Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM#615401
Intellectual disability syndromic and non-syndromic v0.32 CORO1A Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.31 CORO1A Zornitza Stark Classified gene: CORO1A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.31 CORO1A Zornitza Stark Gene: coro1a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.30 CORO1A Zornitza Stark reviewed gene: CORO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 8, MIM#615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.30 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.30 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Intellectual disability syndromic and non-syndromic v0.30 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.30 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM#607426
Intellectual disability syndromic and non-syndromic v0.29 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.28 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM#607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.28 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Intellectual disability syndromic and non-syndromic v0.28 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.28 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM#267750
Intellectual disability syndromic and non-syndromic v0.27 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.26 COL18A1 Zornitza Stark Classified gene: COL18A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.26 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.25 COL18A1 Zornitza Stark reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.25 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iil, MIM#614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.25 CNTNAP5 Zornitza Stark Marked gene: CNTNAP5 as ready
Intellectual disability syndromic and non-syndromic v0.25 CNTNAP5 Zornitza Stark Gene: cntnap5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.25 CNTNAP5 Zornitza Stark Phenotypes for gene: CNTNAP5 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.24 CNTNAP5 Zornitza Stark Publications for gene: CNTNAP5 were set to
Intellectual disability syndromic and non-syndromic v0.23 CNTNAP5 Zornitza Stark Mode of inheritance for gene: CNTNAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.22 CNTNAP5 Zornitza Stark Classified gene: CNTNAP5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.22 CNTNAP5 Zornitza Stark Gene: cntnap5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP5 Zornitza Stark reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: 20346443; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.21 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286
Intellectual disability syndromic and non-syndromic v0.20 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Intellectual disability syndromic and non-syndromic v0.19 CNTNAP1 Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.18 CNTNAP1 Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.18 ABCC6 Chirag Patel Marked gene: ABCC6 as ready
Intellectual disability syndromic and non-syndromic v0.18 ABCC6 Chirag Patel Added comment: Comment when marking as ready: Agree not an ID gene
Intellectual disability syndromic and non-syndromic v0.18 ABCC6 Chirag Patel Gene: abcc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.18 ABCC6 Chirag Patel Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.17 ABCC6 Chirag Patel Classified gene: ABCC6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.17 ABCC6 Chirag Patel Gene: abcc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.16 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Intellectual disability syndromic and non-syndromic v0.16 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.16 CHD3 Zornitza Stark Classified gene: CHD3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.16 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.15 ABAT Zornitza Stark Marked gene: ABAT as ready
Intellectual disability syndromic and non-syndromic v0.15 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.15 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Intellectual disability syndromic and non-syndromic v0.14 ABAT Zornitza Stark Publications for gene: ABAT were set to
Intellectual disability syndromic and non-syndromic v0.13 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.12 AAAS Zornitza Stark Marked gene: AAAS as ready
Intellectual disability syndromic and non-syndromic v0.12 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.12 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Intellectual disability syndromic and non-syndromic v0.11 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CNTN4 Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.10 CLIP2 Zornitza Stark reviewed gene: CLIP2: Rating: RED; Mode of pathogenicity: None; Publications: 22608712; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.10 CLCNKB Zornitza Stark reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, MIM#607364, Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.10 CLCNKA Zornitza Stark reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.10 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM#615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CISD2 Zornitza Stark reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25703627; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.10 CHD3 Zornitza Stark gene: CHD3 was added
gene: CHD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD3 were set to 30397230
Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205
Review for gene: CHD3 was set to GREEN
gene: CHD3 was marked as current diagnostic
Added comment: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.9 CHD1 Zornitza Stark gene: CHD1 was added
gene: CHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682
Review for gene: CHD1 was set to GREEN
Added comment: Six unrelated individuals with heterozygous variants reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.8 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CFH Zornitza Stark reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CEP89 Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CEP63 Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.8 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Intellectual disability syndromic and non-syndromic v0.8 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.8 KIF1BP Zornitza Stark Classified gene: KIF1BP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.8 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.7 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome 609460
Review for gene: KIF1BP was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.6 CDK6 Zornitza Stark reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23918663; Phenotypes: Microcephaly 12, primary, autosomal recessive, MIM#616080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CDK16 Zornitza Stark reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6 CD96 Zornitza Stark reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847009; Phenotypes: C syndrome, MIM#211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CCDC8 Zornitza Stark reviewed gene: CCDC8: Rating: RED; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6 CCDC78 Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Centronuclear myopathy 4, MIM#614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CACNA1G Zornitza Stark reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 29878067; Phenotypes: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1E were set to 30343943
Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69, MIM#618285
Review for gene: CACNA1E was set to GREEN
gene: CACNA1E was marked as current diagnostic
Added comment: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5 CA8 Zornitza Stark reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 19461874; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM#614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BRAT1 Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BMPER Zornitza Stark reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphanospondylodysostosis, MIM#608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 BDNF Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 BBIP1 Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481; Phenotypes: Joubert syndrome 34, MIM#614175, Meckel syndrome 10, MIM#614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B4GALT1 Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 AVPR2 Zornitza Stark reviewed gene: AVPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5 AVPR1A Zornitza Stark reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5 AVP Zornitza Stark reviewed gene: AVP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal, MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 ATXN10 Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 10, MIM#603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5 ATP8A2 Zornitza Stark reviewed gene: ATP8A2: Rating: ; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972
Review for gene: ATP6AP1 was set to GREEN
gene: ATP6AP1 was marked as current diagnostic
Added comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: None; Publications: 22912398, 27653636; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Darier disease, MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, MIM#614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATP10A Zornitza Stark reviewed gene: ATP10A: Rating: RED; Mode of pathogenicity: None; Publications: 31696658; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ATAD1 was set to GREEN
gene: ATAD1 was marked as current diagnostic
Added comment: Severe progressive neurological disorder, severe/profound intellectual disability is a feature
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Review for gene: ASTN1 was set to GREEN
gene: ASTN1 was marked as current diagnostic
Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2 ASNS Zornitza Stark reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Asparagine synthetase deficiency, MIM#615574; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2 ASL Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria, MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2 ASH1L Zornitza Stark gene: ASH1L was added
gene: ASH1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329
Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796
Review for gene: ASH1L was set to GREEN
gene: ASH1L was marked as current diagnostic
Added comment: Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1 ARNT2 Zornitza Stark reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24022475; Phenotypes: Webb-Dattani syndrome 615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ARHGAP31 Zornitza Stark reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1 APTX Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ANKH Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1 ALX3 Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 1, MIM#136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending, MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1 ABAT Zornitza Stark edited their review of gene: ABAT: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALG14 Zornitza Stark edited their review of gene: ALG14: Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; Changed rating: GREEN; Changed publications: 30221345, 23404334, 28733338
Intellectual disability syndromic and non-syndromic v0.0 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM#229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease XII, MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 8, MIM#614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AHCY Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGTR2 Zornitza Stark reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 AGT Zornitza Stark reviewed gene: AGT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGPS Zornitza Stark reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGK Zornitza Stark reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AGGF1 Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM#208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADD3 Zornitza Stark reviewed gene: ADD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768408, 23836506; Phenotypes: Cerebral palsy, spastic quadriplegic, 3, MIM#617008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.0 ADAT3 Zornitza Stark reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286; Phenotypes: Mental retardation, autosomal recessive 36, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADAMTS10 Zornitza Stark reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM#277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ACTA1 Zornitza Stark reviewed gene: ACTA1: Rating: RED; Mode of pathogenicity: None; Publications: 21514153; Phenotypes: Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800, Nemaline myopathy 3, MIM#161800, Myopathy, actin, congenital, with cores, MIM#161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 2, MIM#618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 ABAT Zornitza Stark reviewed gene: ABAT: Rating: ; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.0 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ZBTB11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: YY1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 YWHAG Zornitza Stark gene: YWHAG was added
gene: YWHAG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: YWHAG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XRCC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 XIST Zornitza Stark gene: XIST was added
gene: XIST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: XIST was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR73 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR45B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDFY3 Zornitza Stark gene: WDFY3 was added
gene: WDFY3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDFY3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WAC Zornitza Stark gene: WAC was added
gene: WAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WAC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: VAMP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: USP18 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UNC13A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBTF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBR4 Zornitza Stark gene: UBR4 was added
gene: UBR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBR4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: UBA5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TXNL4A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB2A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TUBB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRMT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIT1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIP13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRIM37 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC6A Zornitza Stark gene: TRAPPC6A was added
gene: TRAPPC6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC6A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TRAK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TOE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TNRC6B Zornitza Stark gene: TNRC6B was added
gene: TNRC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TNRC6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMTC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMLHE Zornitza Stark gene: TMLHE was added
gene: TMLHE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMLHE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TMEM260 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TLK2 Zornitza Stark gene: TLK2 was added
gene: TLK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TLK2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THRA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 THAP1 Zornitza Stark gene: THAP1 was added
gene: THAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: THAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TCF20 Zornitza Stark gene: TCF20 was added
gene: TCF20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TCF20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBR1 Zornitza Stark gene: TBR1 was added
gene: TBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBR1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBCK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBCD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TBC1D23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAZ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAOK1 Zornitza Stark gene: TAOK1 was added
gene: TAOK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAOK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TANGO2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF8 Zornitza Stark gene: TAF8 was added
gene: TAF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF6 Zornitza Stark gene: TAF6 was added
gene: TAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 TAF13 Zornitza Stark gene: TAF13 was added
gene: TAF13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: TAF13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SURF1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STX1B Zornitza Stark gene: STX1B was added
gene: STX1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STX1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 STAG1 Zornitza Stark gene: STAG1 was added
gene: STAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: STAG1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPRTN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPG11 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPECC1L was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SPART was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SOX9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SON Zornitza Stark gene: SON was added
gene: SON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SON was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNX14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNRPA Zornitza Stark gene: SNRPA was added
gene: SNRPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNRPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNORD118 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SMPD4 Zornitza Stark gene: SMPD4 was added
gene: SMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMPD4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC9A7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A9 Zornitza Stark gene: SLC6A9 was added
gene: SLC6A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC6A1 Zornitza Stark gene: SLC6A1 was added
gene: SLC6A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC6A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC46A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC45A1 Zornitza Stark gene: SLC45A1 was added
gene: SLC45A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC45A1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC39A8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC39A14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A24 Zornitza Stark gene: SLC25A24 was added
gene: SLC25A24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A24 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC25A20 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLC12A5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SIN3A Zornitza Stark gene: SIN3A was added
gene: SIN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SIN3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SIK1 Zornitza Stark gene: SIK1 was added
gene: SIK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SIK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SHANK1 Zornitza Stark gene: SHANK1 was added
gene: SHANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SHANK1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SGPL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SETD1B Zornitza Stark gene: SETD1B was added
gene: SETD1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SETD1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SET Zornitza Stark gene: SET was added
gene: SET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SET was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SCN3A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SAMD9 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RTEL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RPS23 Zornitza Stark gene: RPS23 was added
gene: RPS23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RPS23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNF135 Zornitza Stark gene: RNF135 was added
gene: RNF135 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNF135 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RNF125 Zornitza Stark gene: RNF125 was added
gene: RNF125 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RNF125 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RIMS1 Zornitza Stark gene: RIMS1 was added
gene: RIMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RIMS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RHEB Zornitza Stark gene: RHEB was added
gene: RHEB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RHEB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RERE Zornitza Stark gene: RERE was added
gene: RERE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RERE was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAC3 Zornitza Stark gene: RAC3 was added
gene: RAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAC3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAC1 Zornitza Stark gene: RAC1 was added
gene: RAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 RAB11B Zornitza Stark gene: RAB11B was added
gene: RAB11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RAB11B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 QRICH1 Zornitza Stark gene: QRICH1 was added
gene: QRICH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: QRICH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PYCR2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PUM1 Zornitza Stark gene: PUM1 was added
gene: PUM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PUM1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PUF60 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTPN23 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PTF1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PSMD12 Zornitza Stark gene: PSMD12 was added
gene: PSMD12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PSMD12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRUNE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRRT2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRMT7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PRKD1 Zornitza Stark gene: PRKD1 was added
gene: PRKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PRKD1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP3CA Zornitza Stark gene: PPP3CA was added
gene: PPP3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP3CA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP1R15B Zornitza Stark gene: PPP1R15B was added
gene: PPP1R15B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP1R15B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PPP1CB was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POLG was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 POGZ Zornitza Stark gene: POGZ was added
gene: POGZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: POGZ was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLPBP was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLK4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PLAA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PIGC Zornitza Stark gene: PIGC was added
gene: PIGC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PIGC was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PGM3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX26 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PEX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCLO Zornitza Stark gene: PCLO was added
gene: PCLO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCLO was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCGF2 Zornitza Stark gene: PCGF2 was added
gene: PCGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCGF2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH12 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PCDH10 Zornitza Stark gene: PCDH10 was added
gene: PCDH10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH10 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PBX1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX8 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PAX7 Zornitza Stark gene: PAX7 was added
gene: PAX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PAX7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PARN was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 PACS2 Zornitza Stark gene: PACS2 was added
gene: PACS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PACS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: OTUD6B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ORC4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NUP188 Zornitza Stark gene: NUP188 was added
gene: NUP188 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NUP188 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NSD2 Zornitza Stark gene: NSD2 was added
gene: NSD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NSD2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NRXN2 Zornitza Stark gene: NRXN2 was added
gene: NRXN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NRXN2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NR4A2 Zornitza Stark gene: NR4A2 was added
gene: NR4A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NR4A2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NEXMIF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NCKAP1 Zornitza Stark gene: NCKAP1 was added
gene: NCKAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NCKAP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NANS was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NACC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NAA15 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYMK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MTOR was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MSMO1 Zornitza Stark gene: MSMO1 was added
gene: MSMO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MSMO1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MSL3 Zornitza Stark gene: MSL3 was added
gene: MSL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MSL3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MICU1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MFF Zornitza Stark gene: MFF was added
gene: MFF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MFF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED25 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MED13 Zornitza Stark gene: MED13 was added
gene: MED13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MED13 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MDH2 Zornitza Stark gene: MDH2 was added
gene: MDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MDH2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MBOAT7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAP1B Zornitza Stark gene: MAP1B was added
gene: MAP1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAP1B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAF Zornitza Stark gene: MAF was added
gene: MAF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAF was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MADD Zornitza Stark gene: MADD was added
gene: MADD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MADD was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MAB21L2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LONP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LNPK Zornitza Stark gene: LNPK was added
gene: LNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LNPK was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LNP1 Zornitza Stark gene: LNP1 was added
gene: LNP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LNP1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LINS1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LGI4 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LARS2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LARGE1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KNL1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KMT2E was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KLHL7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KLF7 Zornitza Stark gene: KLF7 was added
gene: KLF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KLF7 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF5C was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF4A Zornitza Stark gene: KIF4A was added
gene: KIF4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF4A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF16B Zornitza Stark gene: KIF16B was added
gene: KIF16B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF16B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIF14 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIDINS220 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIAA1109 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KIAA0586 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KDM5B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KDM1A Zornitza Stark gene: KDM1A was added
gene: KDM1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KDM1A was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCTD3 Zornitza Stark gene: KCTD3 was added
gene: KCTD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCTD3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNQ5 Zornitza Stark gene: KCNQ5 was added
gene: KCNQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNQ5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNQ3 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNMA1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNJ6 Zornitza Stark gene: KCNJ6 was added
gene: KCNJ6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNJ6 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNH1 Zornitza Stark gene: KCNH1 was added
gene: KCNH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNH1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNC1 Zornitza Stark gene: KCNC1 was added
gene: KCNC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNC1 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KCNA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 KAT5 Zornitza Stark gene: KAT5 was added
gene: KAT5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: KAT5 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ITPA was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: ISCA2 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 IRF2BPL Zornitza Stark gene: IRF2BPL was added
gene: IRF2BPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: IRF2BPL was set to Unknown