Skeletal dysplasia
Gene: RMRP
Metaphyseal dysplasia gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RMRP; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 4:48 p.m.
Comment when marking as ready: Associated with phenotypes in OMIM and Cartilage-hair hypoplasia 250250 in G2P. Numerous variants reported in each of the three phenotypes associated with this geneCreated: 29 Jul 2016, 2:16 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095; Metaphyseal dysplasia without hypotrichosis 250460 for gene: RMRP
Source NHS GMS was added to RMRP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for RMRP were set to Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460
Mode of inheritance for RMRP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RMRP was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
RMRP was added to Unexplained skeletal dysplasiapanel. Sources:
RMRP was created by sleigh