CYB5A

cytochrome b5 type A
OMIM: 613218, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CYB5A in Rare anaemia


Version 1.29
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 250790 Methemoglobinemia and ambiguous genitalia

Green CYB5A in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.49
Latest signed off version: v2.2 (3 Mar 2020)

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