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COVID-19 research

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

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
from OMIM: Mitochondrial RNA-processing endoribonuclease (RNase MRP) cleaves mitochondrial RNA complementary to the light chain of the displacement loop (D loop) at a unique site (PMID: 3582365 Chang and Clayton, 1987). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first known RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA, not a protein (summary by PMID: 2328993 Hsieh et al., 1990).
Created: 27 Jul 2018, 9:55 a.m.
added locus-type-rna-ribosomal tag
Created: 27 Jul 2018, 9:53 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RMRP .PanelApp HGNC gene symbol check: RMRP . IUIS Disease: Cartilage hair hypoplasia (CHH) . IUIS Inheritance: AR .T cells: Variable numbers and activation profile, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Immuno-osseous Dysplasias
Created: 2 Jul 2018, 10:35 a.m.
Ellen McDonagh (Genomics England Curator) 3 Jun 2016 review: PMID:25663137 - RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations; PMID:26830278;26279652;24217815 - Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.
Created: 18 Apr 2018, 3:49 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RMRP, PanelApp HGNC gene symbol check: RMRP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Omenn syndrome / Omenn syndrome; Other well defined PIDs / Cartilage hair hypoplasia / Cartilage hair hypoplasia
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: RMRP, GRID_Gene_Symbol: RMRP, GRID_Transcript_ENS_Community submitted: ENST00000602361, GRID_Transcript_RefSeq: NR_003051.3, GRID_Transcript_ENS_used_on_Production: ENST00000602361
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:46 p.m.
Comment on list classification: Added by expert review, and rated green by a second reviewer.
Created: 3 Jun 2016, 2:54 p.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
  • Cartilage hair hypoplasia
  • Cartilage-hair hypoplasia
  • Anauxetic dysplasia 1, 232220
  • Omenn syndrome
  • Cartilage-hair hypoplasia, with or without immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
OMIM
157660
Clinvar variants
Variants in RMRP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: RMRP was added gene: RMRP was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMRP were set to 26830278; 2328993; 3582365; 24217815; 26279652; 25663137 Phenotypes for gene: RMRP were set to Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine; Cartilage hair hypoplasia; Cartilage-hair hypoplasia; Anauxetic dysplasia 1, 232220; Omenn syndrome; Cartilage-hair hypoplasia, with or without immunodeficiency; Combined immunodeficiencies with associated or syndromic features