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Genetic epilepsy syndromes

Gene: CACNA1G

Green List (high evidence)

CACNA1G (calcium voltage-gated channel subunit alpha1 G)
EnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 10 panels

3 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: Green.
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)

Green List (high evidence)

AD SCA42. In OMIM for the early onset severe SCA42 with neurodevelopmental deficits it mentions that there are seizures in some patients. Chemin et al, 2018 - 4 unrelated girls - 2 had early onset seizures. De novo het missense variants identified in all individuals (A196T in 3 cases). Functional studies done.
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
Spinocerebellar ataxia, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on mode of pathogenicity: Gain of function missense variants c.2881G>A p.Ala961Thr and c.4591A>G, p.Met1531Val reported so far
Created: 20 Jun 2018, 3:18 p.m.
Comment on list classification: Based on additional information received from Ian Berry (Leeds): "CACNA1G now appears to be cerebellar atrophy and epilepsy gene (PMID 29878067). The cohort of 4 patients with ID, two of whom had EIEE have variants in CACNA1G. Functional characterization shows modification in gating and channel function, supportive of a pathogenic consequence. An additional case has also been reported displaying the same phenotypic features as those published in PMID 29878067 and carrying one of the reported variants.
Created: 20 Jun 2018, 9:18 a.m.
PMID: 17397049 reports one variant, c.1709C>T (Ala570Val), is present in a sporadic case of juvenile myoclonic epilepsy (JME) with early childhood absence and astatic seizures, but was not found in control samples. Another variant, c.3265G>T (Ala1089Ser), was observed in three family members affected with JME, and also in one control individual. Two JME patients and three control individuals harbored a third variant, c.2968G>A (Asp980Asn). Although not statistically significant, slightly faster inactivation decay rates were observed in some mutant channels.
Created: 19 Dec 2017, 2:06 p.m.

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

Phenotypes
Spinocerebellar ataxia 42 616795

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Spinocerebellar ataxia 42 616795
Tags
missense
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

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 CACNA1G.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CACNA1G.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: PMID: 17397049 reports one var

20 Jun 2018, Gel status: 3

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: CACNA1G was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

20 Jun 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1G were set to 17397049; 25558065; 28726809; 29878067

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacna1g has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1G were set to 17397049; 25558065; 28726809

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cacna1g has been classified as Green List (High Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CACNA1G was added to Genetic Epilepsy Syndromes panel. Sources: Literature

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CACNA1G was created by Sarah Leigh