Hereditary ataxia
Gene: CACNA1AComment on mode of inheritance: not on list of imprinted genesCreated: 4 Feb 2016, 2:02 p.m.
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:02 p.m.
Fine. Lots of literature, positives in our cohort. Mode of pathogenicity: loss-of-function.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 2; Spinocerebellar ataxia 6; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
Variants in this GENE are reported as part of current diagnostic practice
Tag nucleotide-repeat-expansion was removed from gene: CACNA1A.
Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2; Spinocerebellar ataxia 6; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CACNA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CACNA1A was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene CACNA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CACNA1A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
CACNA1A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen