Familial Hirschsprung Disease

Gene: DNMT3B

Red List (low evidence)

DNMT3B (DNA methyltransferase 3 beta)
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 6 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Mode of inheritance
Unknown

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked DNMT3B as ready: August 3rd 2017. Red review plus insufficient evidence for role of DNMT3B in Hirschsprung disease. Only 1 paper so far (PMID:24577265) which reports only polygenic cases with RET. Therefore DNMT3B may be a modifier of the Hirschsprung's phenotype and is remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:09 a.m.
Added 'polygenic' tag based on PMID:24577265 which found missense mutations in DNMT3B in conjunction with RET mutations in HSCR patients.
Created: 5 Jun 2017, 2:22 p.m.
Torroglosa et al. (2014, PMID:24577265) found 3 missense mutations in DNMT3B that could potentially be pathogenic. These mutations were present in conjunction with RET mutations in patients with long-segment Hirschsprung disease; the synergistic effect of mutations may contribute to a more severe phenotype.
Created: 5 Jun 2017, 2:21 p.m.

Mode of inheritance
Unknown

Phenotypes
long-segment Hirschsprung disease

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • long-segment Hirschsprung disease
Tags
polygenic
OMIM
602900
Clinvar variants
Variants in DNMT3B
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)

DNMT3B was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DNMT3B was added to Familial Hirschsprung Diseasepanel. Sources: Other