Cerebellar hypoplasia
Gene: CACNA1G
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 farCreated: 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
Publications for gene: CACNA1G were set to 17397049; 25558065; 28726809; 29878067
Gene: cacna1g has been classified as Green List (High Evidence).
Mode of pathogenicity for gene: CACNA1G was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene: CACNA1G were set to 616795
Gene: cacna1g has been classified as Green List (High Evidence).
CACNA1G was added to Cerebellar hypoplasia panel. Sources: Expert Review
CACNA1G was created by Sarah Leigh