Ataxia - paediatric
Gene: CACNA2D2EnsemblGeneIds (GRCh38): ENSG00000007402
EnsemblGeneIds (GRCh37): ENSG00000007402
OMIM: 607082, Gene2Phenotype
CACNA2D2 is in 4 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
4 out of 6 families reported individuals <1 years old with ataxia
Sources: LiteratureCreated: 28 Mar 2022, 3:46 a.m.
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
- Literature
- 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
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: cacna2d2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: cacna2d2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: CACNA2D2 was added gene: CACNA2D2 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629 Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Review for gene: CACNA2D2 was set to GREEN gene: CACNA2D2 was marked as current diagnostic