Genomics England
GMS Panels
Panels
Genes and Entities

MBD4

methyl-CpG binding domain 4, DNA glycosylase
OMIM: 603574
PanelMode of inheritanceDetails
3 panels
Green
in Haematological malignancies cancer susceptibility
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumor predisposition syndrome 2, OMIM:619975, Multi-organ tumour predisposition syndrome, Adenomatous colorectal polyposis, Colorectal cancer, Acute myeloid leukemia, Uveal melanoma
Green
in Inherited polyposis and early onset colorectal cancer - germline testing
R-numbers: R211
Signed-off version 4.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumor predisposition syndrome 2, OMIM:619975, Multi-organ tumour predisposition syndrome, Adenomatous colorectal polyposis, Colorectal cancer, Acute myeloid leukemia, Uveal melanoma
Green
in Inherited predisposition to acute myeloid leukaemia (AML)
R-numbers: R347
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumor predisposition syndrome 2, OMIM:619975, Multi-organ tumour predisposition syndrome, Adenomatous colorectal polyposis, Colorectal cancer, Acute myeloid leukemia, Uveal melanoma