Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CACNB4

Red List (low evidence)

CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 15 panels

0 reviews

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CACNB4 was added gene: CACNB4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNB4 were set to PMC1378014 Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; Episodic Ataxia