Hereditary neuropathy
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Brugada syndrome and cardiac sodium channel disease
- Short QT syndrome
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Skeletal dysplasia
- Fetal anomalies
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: ABCC9
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ABCC9.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ABCC9.
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC9 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory