Ectodermal dysplasia

Gene: RMRP

Green List (high evidence)

RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 14 panels

3 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Cartilage-hair hypoplasia syndrome

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.

Sarah Leigh (Genomics England Curator)

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.

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RMRP was added gene: RMRP was added to Ectodermal dysplasia. Sources: 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