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Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AD episodic ataxia type 5, and AD epilepsy. Escagy et al, 2000 - women with juvenille epilepsy - het nonsense variant and in an affected father and son a het missense variant.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; Episodic ataxia, type 5, 613855

Publications

Deb Pal (King's College London)

Red List (low evidence)

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CACNB4.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CACNB4.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: one variant describes in one p

26 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CACNB4. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CACNB4 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CACNB4 was created by Sarah Leigh