Familial Hirschsprung Disease

Gene: ARVCF

Red List (low evidence)

ARVCF (ARVCF, delta catenin family member)
EnsemblGeneIds (GRCh38): ENSG00000099889
EnsemblGeneIds (GRCh37): ENSG00000099889
OMIM: 602269, Gene2Phenotype
ARVCF is in 2 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked ARVCF as ready: August 3rd 2017. No direct evidence for role of ARVCF in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 9:46 a.m.
Associated with risk of HSCR through exome-wide association study (PMID:26887379).
Created: 5 Jun 2017, 1:35 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • HSCR
  • Hirschsprung s Disease risk
OMIM
602269
Clinvar variants
Variants in ARVCF
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.

18 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ARVCF was changed to Unknown

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)

ARVCF was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ARVCF was added to Familial Hirschsprung Diseasepanel. Sources: Literature