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

MBD4

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MBD4 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Tumor predisposition syndrome 2 MIM#619975
    • Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356
    Tags
    • cancer

    Green MBD4 in Colorectal Cancer and Polyposis


    Level 2: Cancer Predisposition
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert List
    Phenotypes
    • Tumor predisposition syndrome 2, MIM#619975