RMRP

Chr 9AR

RNA component of mitochondrial RNA processing endoribonuclease

This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at DNA replication priming sites and also forms a ribonucleoprotein complex with telomerase that produces double-stranded RNAs processed into small interfering RNAs. Mutations cause cartilage-hair hypoplasia, anauxetic dysplasia, and metaphyseal dysplasia without hypotrichosis, all involving skeletal dysplasia with variable hair abnormalities. Inheritance is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Anauxetic dysplasia 1MIM #607095

Cartilage-hair hypoplasiaMIM #250250

Metaphyseal dysplasia without hypotrichosisMIM #250460

Clinical highlights

Gene-disease validity (ClinGen)

cartilage-hair hypoplasia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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