Short QT syndrome
Gene: CACNB2EnsemblGeneIds (GRCh38): ENSG00000165995
EnsemblGeneIds (GRCh37): ENSG00000165995
OMIM: 600003, Gene2Phenotype
CACNB2 is in 5 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case in which the expert panel concluded the phenotype was Brugada syndrome and not SQTS.
Sources: Expert ReviewCreated: 11 Oct 2021, 4:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short QT syndrome 1
Publications
- PMID: 34557911
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Short QT syndrome 1
- Tags
- OMIM
- 600003
- Clinvar variants
- Variants in CACNB2
- 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: cacnb2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacnb2 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: CACNB2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: CACNB2 was added gene: CACNB2 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB2 were set to PMID: 34557911 Phenotypes for gene: CACNB2 were set to Short QT syndrome 1 Review for gene: CACNB2 was set to RED