| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.85 | KCNMA1 | Bryony Thompson Marked gene: KCNMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.85 | KCNMA1 | Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.85 | KCNMA1 | Bryony Thompson Classified gene: KCNMA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.85 | KCNMA1 | Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.84 | KCNMA1 |
Bryony Thompson gene: KCNMA1 was added gene: KCNMA1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNMA1 were set to 35730691; 35156297; 33178487; 32132200; 31152168 Phenotypes for gene: KCNMA1 were set to Liang-Wang syndrome, MONDO:0032886; Neurodevelopmental disorder, MONDO:0700092 Review for gene: KCNMA1 was set to GREEN Added comment: Liang‑Wang syndrome (loss‑of‑function KCNMA1) is a monoallelic disorder characterised by developmental delay, cognitive impairment, progressive ataxia and movement abnormalities. Across four studies, 12 independent families with de novo LoF variants have been reported (PMID 32132200, PMID 31152168, PMID 35156297, PMID 33178487). A second, recessive loss‑of‑function neurodevelopmental disorder with ataxia has been described in a single compound‑heterozygous family (PMID 31152168); while supportive, it does not meet the family‑count threshold for a diagnostic‑grade rating. Sources: Literature |
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