Familial Hirschsprung Disease
Gene: DNMT3BEnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 7 panels
2 reviews
Erwin Brosens (Erasmus MC)
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
- OMIM
- 602900
- Clinvar variants
- Variants in DNMT3B
- Penetrance
- Complete
- Publications
- Panels with this gene
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.
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)DNMT3B was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)DNMT3B was added to Familial Hirschsprung Diseasepanel. Sources: Other