Genomics England
GMS Panels
Panels
Genes and Entities

YRDC

yrdC N6-threonylcarbamoyltransferase domain containing
OMIM: 612276
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
YRDC-associated nephrotic syndrome and microcephaly
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome MONDO:0009627
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome MONDO:0009627