Research panel - Severe Paediatric Disorders
Gene: ABCC9

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ABCC9; Recommended initial gene rating: Green List (high evidence); Phenotypes: Atrial fibrillation, familial, 12, 614050 (3) | Cardiomyopathy, dilated, 1O, 608569 (3) | Hypertrichotic osteochondrodysplasia, 239850 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Cardiomyopathy, dilated, 1O, 608569
Hypertrichotic osteochondrodysplasia, 239850
Atrial fibrillation, familial, 12, 614050

OMIM

601439

Clinvar variants

Variants in ABCC9

Penetrance

None

Publications

30847515

Panels with this gene