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Primary immunodeficiency

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

7 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 4:23 p.m. | Last Modified: 14 Oct 2020, 4:23 p.m.
Panel Version: 2.308
The following PubMed IDs were added to gene RMRP (OMIM gene MIM#157660): 14569125;11207361;12107819. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

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
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
Phenotypes
  • Anauxetic dysplasia 1, 232220
  • Cartilage-hair hypoplasia, with or without immunodeficiency
  • Cartilage-hair hypoplasia
  • Omenn syndrome
  • Cartilage hair hypoplasia
  • 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
  • Combined immunodeficiencies with associated or syndromic features
Tags
locus-type-rna-ribosomal
OMIM
157660
Clinvar variants
Variants in RMRP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rmrp has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to RMRP. Publications for gene RMRP were updated from 25663137; 26830278; 26279652; 24217815; 3582365; 2328993 to 25663137; 3582365; 14569125; 12107819; 11207361; 26830278; 24217815; 26279652; 2328993 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RMRP.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to RMRP.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to RMRP.

27 Jul 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RMRP were set to 25663137; 26830278; 26279652; 24217815; 3582365; 2328993

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RMRP were set to Anauxetic dysplasia 1, 232220, Cartilage-hair hypoplasia, with or without immunodeficiency, Cartilage-hair hypoplasia, Omenn syndrome, Cartilage hair hypoplasia, 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, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to RMRP. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to RMRP. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rmrp has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to RMRP. Panel: Primary immunodeficiency disorders Phenotypes for gene RMRP were set to Anauxetic dysplasia 1, 232220, Cartilage-hair hypoplasia, with or without immunodeficiency, Cartilage-hair hypoplasia, Omenn syndrome, Cartilage hair hypoplasia

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RMRP were set to Anauxetic dysplasia 1, 232220, Cartilage-hair hypoplasia, with or without immunodeficiency, Cartilage-hair hypoplasia

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to RMRP. Panel: Primary immunodeficiency disorders Phenotypes for gene RMRP were set to Anauxetic dysplasia 1, 232220, Cartilage-hair hypoplasia, with or without immunodeficiency, Cartilage-hair hypoplasia

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

RMRP Source: GOSH PID 20171190 was removed from gene: RMRP

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to RMRP. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171190 was added to RMRP. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

RMRP was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

RMRP was created by Louise Daugherty