Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: RMRP

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: 5.10

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

• 14569125
• 11207361
• 12107819

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

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

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.

Green List (high evidence)

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.

Green List (high evidence)