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Mendeliome

Gene: CACNB4

Amber List (moderate 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 32176688: A homozygous missense variant (Leu126Pro) reported in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. Some functional data.
Created: 23 Apr 2020, 3:22 a.m. | Last Modified: 23 Apr 2020, 3:22 a.m.
Panel Version: 0.2602
Comment on phenotypes: One family with episodic ataxia; susceptibility locus for different types of epilepsy.
Created: 28 Dec 2019, 3:01 a.m. | Last Modified: 28 Dec 2019, 3:01 a.m.
Panel Version: 0.448
One multigenerational family with ataxia and supportive animal model data.
Created: 28 Dec 2019, 1:25 a.m. | Last Modified: 23 Apr 2020, 3:22 a.m.
Panel Version: 0.2602

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 5, MIM#613855; Intellectual disability; Epilepsy; Movement disorder

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682
  • {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682
  • Episodic ataxia, type 5, MIM#613855
OMIM
601949
Clinvar variants
Variants in CACNB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacnb4 has been classified as Amber List (Moderate Evidence).

28 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNB4 were set to

28 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacnb4 has been classified as Amber List (Moderate Evidence).

28 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNB4 were changed from to {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682; {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682; Episodic ataxia, type 5, MIM#613855

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNB4 was added gene: CACNB4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNB4 was set to Unknown