| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.30 | AARS2 | Bryony Thompson Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.30 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.30 | AARS2 | Bryony Thompson Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.30 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.29 | AARS2 |
Bryony Thompson gene: AARS2 was added gene: AARS2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 39853526; 38507676; 35084689; 31705293; 31347571; 31099476; 30706699; 29666464; 28322004 Phenotypes for gene: AARS2 were set to Mitochondrial disease, MONDO:0044970; ovarioleukodystrophy, MONDO:0020506 Review for gene: AARS2 was set to GREEN Added comment: PMID 31099476, PMID 30706699, PMID 29666464, PMID 35084689 and PMID 31347571 together report seven families (five independent qualifying families) with biallelic loss‑of‑function AARS2 variants causing adult‑onset leukoencephalopathy, cerebellar atrophy and progressive ataxia. PMID 31705293 describes a single family with recessive cerebellar ataxia without leukoencephalopathy. PMID 39853526, PMID 28322004 and PMID 38507676 report eight families (two independent qualifying families) with ovarioleukodystrophy (leukoencephalopathy + ovarian failure). Sources: Literature |
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