Ectodermal dysplasia without a known gene mutation
Gene: RMRP

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

3 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Cartilage-hair hypoplasia syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:47 p.m.

Created: 6 Jan 2017, 4:47 p.m.

Panel version: 1.5

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

Panel Version: 1.28

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 10 Aug 2016, 12:21 p.m.

Comment on phenotypes: Variants also reported in Anauxetic dysplasia 607095 and Metaphyseal dysplasia without hypotrichosis 250460
Created: 10 Aug 2016, 12:20 p.m.

Created: 10 Aug 2016, 12:20 p.m.

Panel version: 1.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Cartilage-hair hypoplasia 250250

Tags

locus-type-rna-long-non-coding

OMIM

157660

Clinvar variants

Variants in RMRP

Penetrance

Complete

Panels with this gene