Haematological malignancies for rare disease
Gene: RMRPEnsemblGeneIds (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: 1.18
Ellen McDonagh (Genomics England Curator)
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 Red
- Curated sources
- Expert Review Red
- Phenotypes
-
- Class: miscellaneous
- Cartilage-hair hypoplasia syndrome
- Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
- Tags
- OMIM
- 157660
- Clinvar variants
- Variants in RMRP
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Fetal anomalies
- Familial Hirschsprung Disease
- COVID-19 research
- Ectodermal dysplasia
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
Added New Source
Ellen McDonagh (Genomics England Curator)RMRP was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)RMRP was created by Ellen McDonagh