PanelApp (stage)
  1. Genes and Genomic Entities
  2. YRDC

YRDC

yrdC N6-threonylcarbamoyltransferase domain containing
OMIM: 612276, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green YRDC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome

Green YRDC in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome

Green YRDC in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.225

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Galloway-Mowat syndrome

    Green YRDC in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Galloway-Mowat syndrome 10, OMIM # 619609