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Genetic Epilepsy

Gene: CACNA2D2

Green List (high evidence)

CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)
EnsemblGeneIds (GRCh38): ENSG00000007402
EnsemblGeneIds (GRCh37): ENSG00000007402
OMIM: 607082, Gene2Phenotype
CACNA2D2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple affected individuals reported; seizures are part of the phenotype.
Created: 28 Mar 2022, 5:44 a.m. | Last Modified: 28 Mar 2022, 5:46 a.m.
Panel Version: 0.1531

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar atrophy with seizures and variable developmental delay MIM#618501

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple affected individuals reported; DD/ID is variable but present in most.
Created: 28 Mar 2022, 3:25 a.m. | Last Modified: 28 Mar 2022, 3:25 a.m.
Panel Version: 0.12100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar atrophy with seizures and variable developmental delay MIM#618501

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Cerebellar atrophy with seizures and variable developmental delay MIM#618501
OMIM
607082
Clinvar variants
Variants in CACNA2D2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna2d2 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNA2D2 were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA2D2 was added gene: CACNA2D2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA2D2 was set to Unknown