Familial Hirschsprung Disease
Gene: RMRPEnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660.Created: 30 Jul 2024, 2:36 p.m. | Last Modified: 30 Jul 2024, 2:36 p.m.
Panel Version: 1.10
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Cartilage-hair hypoplasia (MIM:250250) with Hirschsprung disease
- Tags
- OMIM
- 157660
- Clinvar variants
- Variants in RMRP
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Fetal anomalies
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Intellectual disability
- Ectodermal dysplasia
- Skeletal dysplasia
- Ectodermal dysplasia without a known gene mutation
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial Hirschsprung Disease
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
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).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)RMRP was added to Familial Hirschsprung Diseasepanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)RMRP was created by rfoulger