Familial Hirschsprung Disease
Gene: RMRP
Comment when marking as ready: Marked as ready: August 14th 2017.Created: 14 Aug 2017, 3:05 p.m.
Comment on list classification: Kept rating as red: 1 red expert review, and currently no direct evidence linking RMRP variants to Hirschsprung's disease.Created: 14 Aug 2017, 3:05 p.m.
Hirschsprung disease of clinically evident severity occurs in a minority of patients with CHH; PMID:8444246 (1993) reviewed the clinical manifestations of 108 Finnish patients with CHH, and observed Hirschsprung disease in 8 patients.Created: 5 Jun 2017, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cartilage-hair hypoplasia (MIM:250250) with Hirschsprung disease
Publications
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
RMRP was added to Familial Hirschsprung Diseasepanel. Sources: Other
RMRP was created by rfoulger