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  3. CACNB4
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Episodic Ataxia

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 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Inactivation of the Cacnb4 gene in the mouse neurologic mutant 'lethargic' results in a complex neurologic disorder that includes absence epilepsy and ataxia. However, the only reported CACNB4 variant reported in association with episodic ataxia in humans (Cys104Phe) is too common in gnomAD v2.1 for a dominantly inherited condition (NFE AF 0.001021, 131/128,338 alleles). In the original French-Canadian family the missense variant was present in 2 unaffected relatives as well as the 5 affected individuals (including the proband). Also, in vitro functional analysis of the C104F variant did not alter channel kinetics.
Created: 30 Jun 2020, 1:20 a.m. | Last Modified: 30 Jun 2020, 1:20 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 5 MIM#613855

Publications

Created: 30 Jun 2020, 1:20 a.m.
Last Modified: 30 Jun 2020, 1:20 a.m.
Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Episodic ataxia, type 5 MIM#613855
OMIM
601949
Clinvar variants
Variants in CACNB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNB4 were set to

30 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacnb4 has been classified as Red List (Low Evidence).

29 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CACNB4 was added gene: CACNB4 was added to Episodic Ataxia. Sources: Expert list Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5 MIM#613855