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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CACNA1G-related developmental disorder (monoallelic) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product. The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:21937992).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; CACNA1G-related developmental disorder (monoallelic)

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 27 Nov 2019, 10:15 p.m. | Last Modified: 27 Nov 2019, 10:15 p.m.
Panel Version: 1.158
Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to reflect MOI of the disorder with the highest disease confidence (CACNA1G-related developmental disorder (monoallelic).
Created: 27 Nov 2019, 10:15 p.m. | Last Modified: 27 Nov 2019, 10:15 p.m.
Panel Version: 1.158
Comment on list classification: Updated from Red to Amber for new disorder: CACNA1G-related developmental disorder (monoallelic). G2P Disease confidence: probable. G2P allelic requirement: monoallelic. G2P mutation consequence:loss of function.
Created: 27 Nov 2019, 10:14 p.m. | Last Modified: 27 Nov 2019, 10:14 p.m.
Panel Version: 1.157
Original DDG2P rating for AUTOSOMAL RECESSIVE MENTAL RETARDATION: possible. Allelic requirement: biallelic. Mutation consequence: loss of function.
Created: 19 Nov 2018, 11:29 a.m. | Last Modified: 27 Nov 2019, 10:13 p.m.
Panel Version: 1.156
Created: 19 Nov 2018, 11:29 a.m.
Last Modified: 27 Nov 2019, 10:13 p.m.
Panel version: 1.158

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • CACNA1G-related developmental disorder (monoallelic)
OMIM
604065
Clinvar variants
Variants in CACNA1G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: CACNA1G.

4 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CACNA1G. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Nov 2019, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CACNA1G.

27 Nov 2019, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CACNA1G was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cacna1g has been classified as Amber List (Moderate Evidence).

27 Nov 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CACNA1G were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CACNA1G-related developmental disorder (monoallelic)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CACNA1G was added gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1G were set to 21937992 Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION