| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v2.3 | AARS2 | Bryony Thompson Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.3 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.3 | AARS2 | Bryony Thompson Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.3 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.2 | AARS2 |
Bryony Thompson gene: AARS2 was added gene: AARS2 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 39853526; 31099476; 28334938 Phenotypes for gene: AARS2 were set to leukoencephalopathy, progressive, with ovarian failure, MONDO:0014387 Review for gene: AARS2 was set to GREEN Added comment: PMID 31099476 reports three families with biallelic loss‑of‑function AARS2 variants causing adult‑onset leukoencephalopathy with progressive cognitive decline, psychiatric symptoms and motor deterioration; PMID 39853526 adds six families with a similar leukoencephalopathy, cognitive impairment, ataxia and ovarian failure due to biallelic missense variants; PMID 28334938 describes five further families with the same phenotype. > 3 families are reported. The disorder presents with early cognitive decline and leukoencephalopathy. Sources: Literature |
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