YRDC

yrdC N6-threonylcarbamoyltransferase domain containing
OMIM: 612276, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green YRDC in Mendeliome


Version 2.0

1 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 2.0

1 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 1.0

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

Green YRDC in Fetal anomalies


Version 2.0

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