Cytopenias and congenital anaemias
Gene: RMRPEnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 13 panels
4 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: 1.118
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green after internal reviewCreated: 10 Mar 2017, 12:38 p.m.
Olivia Niblock (Genomics England Curator)
With caution - there is a potential founder effect mutation, as 70A>G is found in many Amish and Finnish families. However, there are other mutations in other ethnicities (fits the criteria of over 3 variants in over 3 unrelated cases).Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia; Cartilage-hair hypoplasia
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia; Cartilage-hair hypoplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Severe congenital neutropenia
- Cartilage-hair hypoplasia
- Tags
- OMIM
- 157660
- Clinvar variants
- Variants in RMRP
- Penetrance
- Complete
- Publications
- 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
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)RMRP was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green
Created
Louise Daugherty (Genomics England Curator)RMRP was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)RMRP was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)