CYB5A

cytochrome b5 type A
OMIM: 613218, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CYB5A in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 250790 Methemoglobinemia and ambiguous genitalia
Green CYB5A in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency
  • Methemoglobinemia, type I, 250790