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  2. Paroxysmal Dyskinesia
  3. CACNB4
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Paroxysmal Dyskinesia

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

One multigenerational family and supportive animal model data.
Created: 28 Dec 2019, 3:07 a.m. | Last Modified: 28 Dec 2019, 3:07 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 5, MIM#613855

Publications

Created: 28 Dec 2019, 3:07 a.m.
Last Modified: 28 Dec 2019, 3:07 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Children's Hospital Neurology Department
  • Victorian Clinical Genetics Services
Phenotypes
  • 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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855

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).

17 Dec 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 Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department Mode of inheritance for gene: CACNB4 was set to Unknown