Skeletal dysplasia

Gene: RMRP

Green List (high evidence)

Metaphyseal dysplasia gp of SD - several cases; Review on behalf of Tracy Lester

Created: 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

I don't know

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: green

Created: 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.

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, 2:35 p.m. | Last Modified: 30 Jul 2024, 2:35 p.m.

Panel Version: 5.11

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 gene

Created: 29 Jul 2016, 2:16 p.m.

Green List (high evidence)

Tier 1

Created: 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