PDCL3:Ensemblv90

phosducin like 3
OMIM: 611678, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PDCL3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Megacystis-microcolon

Amber PDCL3 in Gastrointestinal neuromuscular disease


Level 2: Gastroenterological disorders
Version 1.25

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • megacystis-microcolon

    Amber PDCL3 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • megacystis-microcolon