Familial cerebral small vessel disease
Gene: CACNA1AComment when marking as ready: Numerous variants reported for this phenotypeCreated: 1 Jul 2016, 5:10 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 1 Jul 2016, 5:10 p.m.
White matter hyperintensities on T2-weighted imaging have been described in one family with autosomal dominant Familial Hemiplegic Migraine, and in an individual with compound heterozygous mutations in the CACNA1A gene and early-onset epileptic encephalopathyCreated: 30 Jun 2016, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Hemiplegic Migraine; epilepsy; encephalopathy
Publications
Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 108500; Migraine, familial hemiplegic, 1 141500 AD; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086 to Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Phenotypes for CACNA1A were set to Episodic ataxia, type 2 108500; Migraine, familial hemiplegic, 1 141500 AD; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086
Publications for CACNA1A were set to 20682717; 12756131; 27250579
CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for CACNA1A were set to Migraine, familial hemiplegic, 1 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; cerebral small vessel disease
CACNA1A was added to Familial cerebral small vessel diseasepanel. Sources: Literature
CACNA1A was created by rheatan