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Severe Paediatric Disorders

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 15 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

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
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ABCC9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ABCC9 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ABCC9.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ABCC9. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ABCC9 was added gene: ABCC9 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ABCC9 was set to