Hereditary neuropathy
Gene: CACNB4EnsemblGeneIds (GRCh38): ENSG00000182389
EnsemblGeneIds (GRCh37): ENSG00000182389
OMIM: 601949, Gene2Phenotype
CACNB4 is in 14 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Episodic ataxiaCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Episodic ataxiaCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 601949
- Clinvar variants
- Variants in CACNB4
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Intellectual disability
- Paroxysmal central nervous system disorders
- Hereditary ataxia, adult onset
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy
- Dystonia, chorea or related movement disorder, adult onset
- Early onset or syndromic epilepsy
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: CACNB4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CACNB4.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to CACNB4.
Added New Source
Ellen McDonagh (Genomics England Curator)CACNB4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory