RRP12:Ensemblv90

ribosomal RNA processing 12 homolog
OMIM: 617723, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RRP12 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RRP12-related
    • Brain calcifications

    Amber RRP12 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RRP12-related
    • Brain calcifications

    Amber RRP12 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Literature
    • Expert Review Amber
    Phenotypes
    • Syndromic disease, MONDO:0002254, RRP12-related
    • Brain calcifications