CYB5R3

cytochrome b5 reductase 3
OMIM: 613213
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800, METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methaemoglobinaemia type I and II, 250800, 250800 Methemoglobinemia, 250800 Methaemoglobinaemia type I and II, Methaemoglobinaemia