Hereditary ataxia
Gene: CACNB4Comment when marking as ready: Still only limited evidenceCreated: 11 Jul 2016, 3:53 a.m.
Still only one report (two families) that I'm aware of, the missense is now looking very ropey on the back of ExAC data. Mode of inheritance/pathogenicity: Dominant negative?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 5 ; Episodic Ataxia
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Publications for CACNB4 were set to PMC1378014
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene CACNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CACNB4 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene CACNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CACNB4 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
CACNB4 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN