GPX4

glutathione peroxidase 4
OMIM: 138322
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia, Sedaghatian type 250220