| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.40 | CACNA1C | Bryony Thompson Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.40 | CACNA1C | Bryony Thompson Gene: cacna1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.40 | CACNA1C | Bryony Thompson Classified gene: CACNA1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.40 | CACNA1C | Bryony Thompson Gene: cacna1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.39 | CACNA1C |
Bryony Thompson gene: CACNA1C was added gene: CACNA1C was added to Ataxia. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to 34163037; 31291898 Phenotypes for gene: CACNA1C were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: CACNA1C was set to GREEN Added comment: CACNA1C encodes the α1C subunit of the L-type voltage‑dependent calcium channel (Cav1.2). PMID 34163037 reports 22 families with heterozygous CACNA1C variants causing a neurodevelopmental disorder that includes ataxia, developmental delay/intellectual disability, autism, epilepsy and hypotonia. PMID 31291898 describes a single family with an intronic CACNA1C variant co‑segregating with autosomal dominant cerebellar ataxia. Sources: Literature |
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