1. Genes and Genomic Entities
  2. YRDC

YRDC

yrdC N6-threonylcarbamoyltransferase domain containing
OMIM: 612276, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red YRDC in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 10, OMIM:619609
Green YRDC in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • YRDC-associated nephrotic syndrome and microcephaly
    Green YRDC in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Galloway-Mowat syndrome MONDO:0009627