Haematological malignancies cancer susceptibility
Gene: RMRP
RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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: 4.5
Ellen McDonagh (Genomics England Curator)
This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees that this gene should be included on this panel.Created: 20 Aug 2018, 1:24 p.m.
Comment on list classification: This gene has now been implemented into the pipeline.Created: 27 Jul 2018, 3:46 p.m.
Comment on list classification: Removed from the Green list of genes, as this is not a protein coding gene.Created: 16 Mar 2018, 9:53 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: miscellaneous
- Cartilage-hair hypoplasia syndrome
- Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
- Tags
- OMIM
- 157660
- Clinvar variants
- Variants in RMRP
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Ectodermal dysplasia without a known gene mutation
- Fetal anomalies
- Familial Hirschsprung Disease
- COVID-19 research
- Skeletal dysplasia
- Ectodermal dysplasia
History Filter Activity
29 Jul 2024, Gel status: 3
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
27 Jul 2018, Gel status: 3
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: rmrp has been classified as Green List (High Evidence).
16 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to RMRP. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RMRP was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RMRP was added to Haematological malignanciespanel. Sources: Curated sources