PanelApp
  1. Genes and Genomic Entities
  2. RRP12

RRP12

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RRP12 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.2

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452

    Amber RRP12 in Mendeliome


    Version 1.3861

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452