Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: CACNG2

Red List (low evidence)

CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000166862
EnsemblGeneIds (GRCh37): ENSG00000166862
OMIM: 602911, Gene2Phenotype
CACNG2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single affected individual reported.
Created: 30 Jan 2020, 10:57 a.m. | Last Modified: 30 Jan 2020, 10:57 a.m.
Panel Version: 0.1784

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 10, MIM#614256

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal dominant 10, MIM#614256
OMIM
602911
Clinvar variants
Variants in CACNG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacng2 has been classified as Red List (Low Evidence).

30 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256

30 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNG2 were set to

30 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacng2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNG2 was added gene: CACNG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CACNG2 was set to Unknown