Cerebellar hypoplasia
Gene: CACNA1G

CACNA1G (calcium voltage-gated channel subunit alpha1 G)
EnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Based on additional information received from Ian Berry (Leeds): "CACNA1G now appears to be cerebellar atrophy and epilepsy gene (PMID 29878067). The cohort of 4 patients with ID, two of whom had EIEE have variants in CACNA1G. Functional characterization shows modification in gating and channel function, supportive of a pathogenic consequence. An additional case has also been reported displaying the same phenotypic features as those published in PMID 29878067 and carrying one of the reported variants.
Created: 20 Jun 2018, 4:10 p.m.

Comment on mode of pathogenicity: Gain of function missense variants c.2881G>A p.Ala961Thr and c.4591A>G, p.Met1531Val reported so far
Created: 20 Jun 2018, 4:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 42 616795

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 20 Jun 2018, 3:59 p.m.

Panel version: 1.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert Review

Phenotypes

Spinocerebellar ataxia 42 616795

Tags

missense

OMIM

604065

Clinvar variants

Variants in CACNA1G

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene