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Intellectual disability

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 11 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: added to phenotypes to support gene on this panel
Created: 16 Jul 2018, 10:34 a.m.

Sarah Leigh (Genomics England Curator)

Red List (low 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, 4:13 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, 4:10 p.m.
Reported as a candidate gene in PMID's 24896178; 26350204; 21937992, with one frame shifting variant identified in PMID 21937992. Not associated with ID phenotype in OMIM, but as a possible in G2P, based on PMID 21937992
Created: 15 Dec 2017, 9:38 a.m.

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

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 42 616795
  • Cerebellar atrophy, epilepsy, intellectual disability
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
Complete
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

16 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42 616795; Cerebellar atrophy, epilepsy, intellectual disability

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 24896178; 26350204; 21937992; 29878067

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

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

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: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CACNA1G were set to 24896178; 26350204; 21937992; 29878067

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CACNA1G was set to ['24896178', ' 26350204', ' 21937992']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1G was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1G was added to Intellectual disabilitypanel. Sources: Expert Review Red