| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v2.157 | PDHA1 | Bryony Thompson Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.157 | PDHA1 | Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.157 | PDHA1 | Bryony Thompson Classified gene: PDHA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.157 | PDHA1 | Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.156 | PDHA1 |
Bryony Thompson gene: PDHA1 was added gene: PDHA1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 41760389; 35132535; 31673819; 29756269; 26014431 Phenotypes for gene: PDHA1 were set to pyruvate dehydrogenase E1-alpha deficiency, MONDO:0010717 Review for gene: PDHA1 was set to GREEN Added comment: Four independent families (PMID 31673819, PMID 26014431, PMID 35132535, PMID 29756269) with X‑linked PDHA1 loss‑of‑function or de novo missense variants present with cerebellar ataxia, developmental delay, lactic acidosis and other neurological signs; an additional prenatal case (PMID 41760389) expands the phenotypic spectrum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||