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| Intellectual disability syndromic and non-syndromic v0.2354 | VARS | Zornitza Stark Marked gene: VARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2354 | VARS | Zornitza Stark Gene: vars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2354 | VARS | Zornitza Stark Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2141 | VARS | Chirag Patel Classified gene: VARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2141 | VARS | Chirag Patel Gene: vars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2140 | VARS | Chirag Patel Classified gene: VARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2140 | VARS | Chirag Patel Gene: vars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2139 | VARS |
Chirag Patel gene: VARS was added gene: VARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004 Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802 Review for gene: VARS was set to GREEN Added comment: 14 families with 20 affected individuals - homozygous missense or compound heterozygous mutations in VARS - mutations segregated with the disorder in the families - functional studies in some cases Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.1545 | VARS2 | Zornitza Stark Marked gene: VARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1545 | VARS2 | Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.370 | 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 |
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| 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 v0.0 | 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 |
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