Familial Hirschsprung Disease
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked ABCC9 as ready: August 3rd 2017. No direct evidence for role of ABCC9 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 9:45 a.m.
Associated with risk of HSCR through GWAS (PMID:25310821).Created: 5 Jun 2017, 1:34 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- risk of HSCR
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Fetal anomalies
- Brugada syndrome and cardiac sodium channel disease
- Hereditary neuropathy or pain disorder
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for ABCC9 was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)ABCC9 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)ABCC9 was added to Familial Hirschsprung Diseasepanel. Sources: Literature