PanelApp (stage)
  1. Genes and Genomic Entities
  2. CYB5A

CYB5A

cytochrome b5 type A
OMIM: 613218, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CYB5A in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Methemoglobinemia and ambiguous genitalia, MIM# 250790

Green CYB5A in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Methemoglobinaemia and ambiguous genitalia, MIM# 250790

Amber CYB5A in Haem degradation and bilirubin metabolism defects


Level 2: Metabolic disorders
Version 0.17

Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Disorders of haem degradation and bilirubin metabolism
    • methemoglobinemia type 4 MONDO:0009605

    Amber CYB5A in Red cell disorders


    Level 2: Haematological disorders
    Version 1.24

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London South GLH
    • NHS GMS
    Phenotypes
    • Methemoglobinaemia and ambiguous genitalia MIM#250790