This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: ABCC9
ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Short QT syndrome
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Brugada syndrome and cardiac sodium channel disease
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Familial Hirschsprung Disease
- Hereditary neuropathy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: ABCC9 was added gene: ABCC9 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted