| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.36 | ARV1 | Bryony Thompson Marked gene: ARV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.36 | ARV1 | Bryony Thompson Gene: arv1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.36 | ARV1 | Bryony Thompson Classified gene: ARV1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.36 | ARV1 | Bryony Thompson Gene: arv1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.35 | ARV1 |
Bryony Thompson gene: ARV1 was added gene: ARV1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARV1 were set to 37749428; 32165008 Phenotypes for gene: ARV1 were set to developmental and epileptic encephalopathy, 38, MONDO:0014868 Review for gene: ARV1 was set to GREEN Added comment: PMID 37749428 reports 1 family and 5 other families identified by a literature review, and PMID 32165008 reports 2 families (3 families total) with autosomal recessive ARV1 loss-of-function variants causing early infantile epileptic encephalopathy 38, characterised by seizures, developmental delay, progressive cerebellar ataxia (often with elevated α‑fetoprotein) Sources: Literature |
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