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  2. Familial Hirschsprung Disease
  3. COMT
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Familial Hirschsprung Disease

Gene: COMT

Red List (low evidence)
COMT (catechol-O-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000093010
EnsemblGeneIds (GRCh37): ENSG00000093010
OMIM: 116790, Gene2Phenotype
COMT is in 1 panel

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Created: 3 Aug 2017, 6:46 a.m.

Panel version: 0.83

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked COMT as ready: August 3rd 2017. No direct evidence for role of COMT in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 9:58 a.m.
Associated with risk of HSCR through exome-wide association study (PMID:26887379).
Created: 5 Jun 2017, 1:35 p.m.
Created: 5 Jun 2017, 1:35 p.m.

Panel version: 0.50

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • HSCR
  • Hirschsprung s Disease risk
OMIM
116790
Clinvar variants
Variants in COMT
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 COMT 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)

COMT was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

COMT was added to Familial Hirschsprung Diseasepanel. Sources: Literature