YRDC

yrdC N6-threonylcarbamoyltransferase domain containing
OMIM: 612276, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber YRDC in Unexplained young onset end-stage renal disease


Version 3.42
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Galloway-Mowat syndrome MONDO:0009627
    Tags
    • Q4_23_promote_green
    Green YRDC in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

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