This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 157660
- Clinvar variants
- Variants in RMRP
- Penetrance
- None
- Panels with this gene
-
- Familial Hirschsprung Disease
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Skeletal dysplasia
- Cytopenias and congenital anaemias
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- COVID-19 research
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: RMRP was added gene: RMRP was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RMRP was set to Unknown