| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v2.239 | YARS1 | Bryony Thompson Marked gene: YARS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.239 | YARS1 | Bryony Thompson Gene: yars1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.239 | YARS1 | Bryony Thompson Classified gene: YARS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.239 | YARS1 | Bryony Thompson Gene: yars1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.238 | YARS1 |
Bryony Thompson gene: YARS1 was added gene: YARS1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: YARS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS1 were set to 34536092 Phenotypes for gene: YARS1 were set to neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375 Review for gene: YARS1 was set to GREEN Added comment: PMID 34536092 reports 12 individuals from 6 families with biallelic YARS1 p.Arg367Trp variants presenting with developmental delay, microcephaly, ataxia, muscular hypotonia, chronic microcytic anemia, hepatomegaly and hypothyroidism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||