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| Cerebellar and Pontocerebellar Hypoplasia v0.49 | CACNA1G | Zornitza Stark Marked gene: CACNA1G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.49 | CACNA1G | Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.49 | CACNA1G | Zornitza Stark Classified gene: CACNA1G as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.49 | CACNA1G | Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.32 | CACNA1G |
Elena Savva gene: CACNA1G was added gene: CACNA1G was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1G were set to PMID: 29878067; 31217264; 26456284 Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087 Mode of pathogenicity for gene: CACNA1G was set to Other Review for gene: CACNA1G was set to GREEN Added comment: OMIM notes Cerebellar hypoplasia as a phenotype Mechanism currently listed as unknown, with evidence of both LoF and GoF (PMID: 31217264). PMID: 29878067 demonstrated impaired channel inactivation with slower inactivation and deactivation kinetics (suggesting GOF). Given only missense have been reported, this is the likely mechanism of disease. PMID: 29878067 - cerebellar ataxia observed in 4 children, global atrophy in 3/4 and vermis atrophy in 1/4. All showed normal pons. Three children share a recurring de novo missense (p.Ala961Thr). PMID: 26456284 - overlapping authors with 29878067 but describes familial cases. Additional (adult and children) patients with cerebellar hypoplasia and vermian atrophy Sources: Expert Review |
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