Metaphyseal dysplasias

Gene: RMRP

Green List (high evidence)

RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 16 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal dysplasia without hypotrichosis 250460
  • Cartilage-hair hypoplasia 250250
  • Anauxetic dysplasia 607095
Tags
non-coding gene
OMIM
157660
Clinvar variants
Variants in RMRP
Penetrance
None
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: RMRP.

26 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

gene: RMRP was added gene: RMRP was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095