Familial Hirschsprung Disease

Gene: ARID1B

Red List (low evidence)

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 7 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked ARID1B as ready: August 3rd 2017. Insufficient evidence for role of ARID1B in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 9:46 a.m.
PMID:27511161 describe a patient with some symptoms of Coffin-Siris syndrome, and Hirschsprung disease. Exome sequencing revealed a heterozygous frameshift mutation in ARID1B (c.5789delC p.Pro1930Leufs*44).
Created: 5 Jun 2017, 1:34 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease
OMIM
614556
Clinvar variants
Variants in ARID1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 1

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.

3 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ARID1B was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ARID1B was added to Familial Hirschsprung Diseasepanel. Sources: Literature