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  3. ABCC9
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Molecular autopsy

Gene: ABCC9

Green List (high evidence)
ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

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 ICC, 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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

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

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to ABCC9.

14 Feb 2019, Gel status: 4

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; 27283775; 15569843; doi:10. 1007/ s12265-016-9673-5; 24439875 to 27532257; 27761167; 24439875; 15034580

20 Dec 2018, Gel status: 4

Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for gene ABCC9 was changed from to Other Added phenotypes ventricular tachycardia; Dilated cardiomyopathy; atrial fibrillation; Brugada syndrome; short qt for gene: ABCC9 Publications for gene ABCC9 were changed from to 21383000; 27283775; 15569843; doi:10. 1007/ s12265-016-9673-5; 24439875

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ABCC9 was added gene: ABCC9 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O