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  3. CACNA1H
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Early onset or syndromic epilepsy

Gene: CACNA1H

Amber List (moderate evidence)
CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels

8 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: Alison Callaway and John Taylor. 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
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

Many variants have been associated with various epilepsy phenotypes, e.g. PMID 17696120, 15048902 report an association with generalised epilepsy
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, childhood absence, susceptibility to, 6}, 611942 ; {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 ; Hyperaldosteronism, familial, type IV, 617027

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Susceptibility gene rather than true monogenic disease.
Created: 8 Aug 2018, 3:36 a.m.
Created: 8 Aug 2018, 3:36 a.m.

Panel version: 0.314

Sarah Leigh (Genomics England Curator)

I don't know

Comment on publications: PMID 32227660 presents further evidence refuting a monogenic contribution of this gene to epilepsy.
Created: 21 Apr 2020, 2:15 p.m. | Last Modified: 21 Apr 2020, 2:15 p.m.
Panel Version: 2.39
Associated with phenotype in OMIM and as a possible G2P. At least four variants have been reported in {Epilepsy, childhood absence, susceptibility to, 6} 611942 and two in {Epilepsy, childhood absence, susceptibility to, 6} 611942. This gene is rated as amber as variants do not always segregate with disease.
Created: 19 Dec 2017, 4:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942

Publications

Created: 19 Dec 2017, 4:07 p.m.

Panel version: Imported from Familial Genetic Generalised Epilepsies panel version 1.21

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Expert
  • Literature
Phenotypes
  • Hyperaldosteronism, familial, type IV 617027
  • {Epilepsy, childhood absence, susceptibility to, 6} 611942
  • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
OMIM
607904
Clinvar variants
Variants in CACNA1H
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1H were set to 12891677; 32227660

21 Apr 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942

21 Apr 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1H were set to 12891677

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CACNA1H.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CACNA1H.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacna1h has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1H were set to 12891677

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacna1h has been classified as Amber List (Moderate Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CACNA1H was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CACNA1H was created by Sarah Leigh