Cerebellar and Pontocerebellar Hypoplasia
Gene: CACNA1GEnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 9 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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 ReviewCreated: 19 Apr 2020, 11:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
- OMIM
- 604065
- Clinvar variants
- Variants in CACNA1G
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1g has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1g has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Elena Savva (Victorian Clinical Genetics Services)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