Brain channelopathy
Gene: CACNB4Comment when marking as ready: added 'treatable' tag and changed penetrance to incompleteCreated: 18 Jan 2017, 1:12 p.m.
One truncating mutation in a family with clinical features similar to episodic ataxia 2 (PMID: 10762541). Two mutations (one missense and one truncating) described in two families with myoclonic and/or generalised epilepsy.Created: 6 Jan 2017, 10:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
episodic ataxia type 5 (EA5), epilepsy
Publications
Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:18 p.m.
This gene has been classified as Green List (High Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Green List (High Evidence).
Publications for CACNB4 were set to 10762541
Mode of inheritance for CACNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CACNB4 was added to Brain channelopathypanel. Sources: UKGTN