GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: RMRP

RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 13 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Metaphyseal dysplasia gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Cartilage-hair hypoplasia 250250
Anauxetic dysplasia 607095
Metaphyseal dysplasia without hypotrichosis 250460

OMIM

157660

Clinvar variants

Variants in RMRP

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: RMRP was added gene: RMRP was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095; Metaphyseal dysplasia without hypotrichosis 250460

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: RMRP