PanelApp (staging)
  1. Genes and Genomic Entities
  2. MBD4

MBD4

methyl-CpG binding domain 4, DNA glycosylase
OMIM: 603574, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MBD4 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Tumor predisposition syndrome 2 - MIM#619975
    • Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma

    Green MBD4 in Incidentalome


    Version 0.318

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356
    Tags
    • cancer