PRORP

protein only RNase P catalytic subunit
OMIM: 609947, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PRORP in Mendeliome


Version 2.10

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 54, MIM# 619737
Tags
  • new gene name

Green PRORP in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 54, MIM# 619737
    Tags
    • new gene name

    Green PRORP in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 54, MIM# 619737
    Tags
    • new gene name

    Amber PRORP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 54, MIM# 619737
    Tags
    • new gene name