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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Rhizomelic limb shortening.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for CARTILAGE-HAIR HYPOPLASIA
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RMRP was added gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA