Short QT syndrome

Gene: ABCC9

Red List (low evidence)

ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 16 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: TEST
Created: 29 Mar 2021, 2:50 p.m. | Last Modified: 29 Mar 2021, 2:50 p.m.
Panel Version: 2.8

James Eden (Manchester)

Red List (low evidence)

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or in Gen2Phen. Listed as a candidate gene for Short QT
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Jules Hancox (University of Bristol)

Red List (low evidence)

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: Literature
Created: 26 Oct 2018, 11:15 a.m.

Mode of inheritance
Unknown

Phenotypes
short qt; ventricular tachycardia; atrial fibrillation

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • ventricular tachycardia
  • Atrial fibrillation, familial, 12 (614050)
  • Cardiomyopathy, dilated, 1O (608569)
  • short qt
  • atrial fibrillation
OMIM
601439
Clinvar variants
Variants in ABCC9
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abcc9 has been classified as Red List (Low Evidence).

29 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abcc9 has been classified as Amber List (Moderate Evidence).

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: Would likely be gain of functi

15 Nov 2018, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Status Update

Sarah Leigh (Genomics England Curator)

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)

26 Oct 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Jules Hancox (University of Bristol)

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