CYBRD1:Ensemblv90

cytochrome b reductase 1
OMIM: 605745, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CYBRD1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Iron metabolism disease, MONDO:0002279, CYBRD1-related

Red CYBRD1 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.52

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    Phenotypes
    • Iron metabolism disease, MONDO:0002279, CYBRD1-related

    Red CYBRD1 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    • Expert Review Red
    Phenotypes
    • Iron metabolism disease, MONDO:0002279, CYBRD1-related