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Genetic epilepsy syndromes

Gene: CACNA1A

Green List (high evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 24 panels

8 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD EIEE42, AD Episodic ataxia 2, AD familial hemiplegic migraine (seizures less common feature - OMIM)and AD SCA6 (CAG repeat tract expansions). AD EIEE42 - Epi4K consorium5 patients including 2 sibs - identified 4 diff heterozygous missense mutations in the CACNA1A gene. Functional studies not done.Mutations de novo apart from in the sibs who inherited it from their unaffected mother who was a mosaic carrier. SeVeral other cases on HGMD Pro associated with epilepsy as the phenotype.
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
Epileptic encephalopathy early infantile, 42 617106; Episodic ataxia, 108500; Migraine, familial hemiplegic, 141500; Migraine, familial hemiplegic, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia,183086

Publications

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: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: The Green review by Professor Deb Pal (KCL) supports the current Green rating of CACNA1A on this epilepsy panel.
Created: 16 May 2019, 3:23 p.m.
Comment on publications: CACNA1A is called CACNL1A4 (the previous gene symbol) in PMID:8898206 (Ophoff et al., 1996).
Created: 16 May 2019, 3:19 p.m.

Deb Pal (King's College London)

Green List (high evidence)

Currently on Amplexa CHE-113 epilepsy diagnostic panel
Created: 12 Feb 2019, 2:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Absence epilepsy; Familial hemiplegic migraine 1

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in 4 unrelated cases.
Created: 8 Nov 2018, 5:16 p.m.
Comment on phenotypes: Variants also associated with Episodic ataxia, type 2 108500;Migraine, familial hemiplegic, 1 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086
Created: 17 Jul 2018, 4:21 p.m.

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: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CACNA1A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CACNA1A.

16 May 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cacna1a has been classified as Green List (High Evidence).

16 May 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CACNA1A were changed from Epileptic encephalopathy, early infantile, 42 617106 to Epileptic encephalopathy, early infantile, 42, 617106; Epilepsy and migraine; Absence epilepsy; Migraine, familial hemiplegic, 1, 141500; Familial hemiplegic migraine 1 (FHM)

16 May 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CACNA1A were set to 29056246; 27476654

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Variant

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacna1a has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacna1a has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1A were set to 29056246; 27476654

17 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CACNA1A were set to Epileptic encephalopathy, early infantile, 42 617106

17 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1A were set to 29056246

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to CACNA1A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CACNA1A. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CACNA1A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CACNA1A was created by Sarah Leigh