Brugada 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 phenotypes: This gene is also associated with Cardiomyopathy, dilated, 1O (608569), Atrial fibrillation, familial, 12 (614050) and Dilated cardiomyopathy
Created: 2 Mar 2021, 11:20 a.m. | Last Modified: 2 Mar 2021, 11:20 a.m.
Panel Version: 2.8

Rebecca Whittington (South West GLH)

Red List (low evidence)

Atrial fibrillation, familial, 12 (OMIM 614050), Cardiomyopathy, dilated, 1O (OMIM 608569), Hypertrichotic osteochondrodysplasia (Cantu -OMIM 239850)
Created: 25 Mar 2019, 4:30 p.m.
Cantu gene - Gene assoc with specific features. No clear evidence from Hu paper as associated with Brugada - phenotypes overlapping and patient has SCN5A variant. PMID:24439875
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 49 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with Brugada syndrome, 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

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Brugada Syndrome reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 4.
Created: 19 Feb 2016, 11:29 a.m.

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O (608569); Brugada syndrome; Atrial fibrillation, familial, 12 (614050); Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9 Publications for gene ABCC9 were changed from 24439875; doi:10.​1007/​s12265-016-9673-5 to 27761167; 24439875

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC9 was added to Brugada syndromepanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ABCC9 was created by ellenmcdonagh