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RMRP

Chr 9p13.3

RNA component of mitochondrial RNA processing endoribonuclease

Aliases:
RMRPR, RRP2, NME1
MANE:
ENST00000363046.2

Annotations refreshed 1 month ago.

Predicted protein structure

No predicted 3D structure for RMRP. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Ectodermal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Ectodermal dysplasia without a known gene mutation

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal

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Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.