Short QT syndrome
Gene: ABCC9
Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 49 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrichotic osteochondrodysplasia Cantu type, which includes some cardiac manifestations (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial fibrillation, familial, 12 (614050); Cardiomyopathy, dilated, 1O (608569)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Not associated with phenotype in OMIM or in Gen2Phen. Listed as a candidate gene for Short QTCreated: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Would likely be gain of function mutations.
The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. ABCC9 encodes Sur2A and Sur2B which are components of the K(ATP) channel.
Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with KCNJ2 (another component of the KATP channel.
A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype.
Sources: LiteratureCreated: 26 Oct 2018, 11:15 a.m.
Mode of inheritance
Unknown
Phenotypes
short qt; ventricular tachycardia; atrial fibrillation
Publications
Mode of pathogenicity
Other
Source North West GLH was added to ABCC9. Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9 Publications for gene ABCC9 were changed from 21383000; 15569843; 27283775 to 30420954; 19862833; 16301704
Jules Hancox: Would likely be gain of functi
Source Brugada syndrome (Version 1.7) was added to ABCC9. Source Expert Review Red was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Red List (low evidence)
gene: ABCC9 was added gene: ABCC9 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: ABCC9 was set to Unknown Publications for gene: ABCC9 were set to 21383000; 15569843; 27283775 Phenotypes for gene: ABCC9 were set to short qt; ventricular tachycardia; atrial fibrillation Mode of pathogenicity for gene: ABCC9 was set to Other Review for gene: ABCC9 was set to RED