Short QT syndrome
Gene: CACNA2D1EnsemblGeneIds (GRCh38): ENSG00000153956
EnsemblGeneIds (GRCh37): ENSG00000153956
OMIM: 114204, Gene2Phenotype
CACNA2D1 is in 7 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with cardiac arrest and a short QT interval, variant did not segregate with SQTS and it was present at >1% in the Ashkenazi Jewish population.
Sources: Expert ReviewCreated: 11 Oct 2021, 4:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short QT syndrome
Publications
- PMID: 34557911
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Short QT syndrome
- Tags
- OMIM
- 114204
- Clinvar variants
- Variants in CACNA2D1
- Penetrance
- None
- Publications
-
- PMID: 34557911
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna2d1 has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: CACNA2D1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna2d1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: CACNA2D1 was added gene: CACNA2D1 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA2D1 were set to PMID: 34557911 Phenotypes for gene: CACNA2D1 were set to Short QT syndrome Review for gene: CACNA2D1 was set to RED