Familial Hirschsprung Disease
Gene: MAPK10EnsemblGeneIds (GRCh38): ENSG00000109339
EnsemblGeneIds (GRCh37): ENSG00000109339
OMIM: 602897, Gene2Phenotype
MAPK10 is in 4 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as ready: August 14th 2017.Created: 14 Aug 2017, 12:36 p.m.
Comment on list classification: Assessed literature evidence, and kept rating as Red until further genotype:phenotype evidence becomes available.Created: 14 Aug 2017, 12:36 p.m.
Added 'cnv' tag based on PMID:21712996, which shows CNVs at MAPK10 locus that show association with HSCR in combination with other congenital anomalies.Created: 5 Jun 2017, 1:45 p.m.
Rat model supporting MAPK10 as a HSCR susceptibility locus reported in PMID:27902697.Created: 5 Jun 2017, 1:43 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- association with HSCR
- Tags
- OMIM
- 602897
- Clinvar variants
- Variants in MAPK10
- 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.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for MAPK10 was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
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)MAPK10 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)MAPK10 was added to Familial Hirschsprung Diseasepanel. Sources: Literature