PQLC2:Ensemblv90

PQ loop repeat containing 2
OMIM: 614760, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PQLC2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, PQLC2-related
Tags
  • new gene name

Green PQLC2 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinitis pigmentosa, MONDO:0019200, PQLC2-related
    Tags
    • new gene name

    Green PQLC2 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa, MONDO:0019200, PQLC2-related
    Tags
    • new gene name