MBD4

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MBD4 in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tumor predisposition syndrome 2, OMIM:619975
  • Multi-organ tumour predisposition syndrome
  • Adenomatous colorectal polyposis
  • Colorectal cancer
  • Acute myeloid leukemia
  • Uveal melanoma
Green MBD4 in Inherited polyposis and early onset colorectal cancer - germline testing


Level 2: Inherited cancer
Version 3.11
Latest signed off version: v3.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Tumor predisposition syndrome 2, OMIM:619975
  • Multi-organ tumour predisposition syndrome
  • Adenomatous colorectal polyposis
  • Colorectal cancer
  • Acute myeloid leukemia
  • Uveal melanoma
Green MBD4 in Inherited predisposition to acute myeloid leukaemia (AML)


Level 2: Haematology
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Tumor predisposition syndrome 2, OMIM:619975
  • Multi-organ tumour predisposition syndrome
  • Adenomatous colorectal polyposis
  • Colorectal cancer
  • Acute myeloid leukemia
  • Uveal melanoma
Green MBD4 in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Tumor predisposition syndrome 2, OMIM:619975
  • Multi-organ tumour predisposition syndrome
  • Adenomatous colorectal polyposis
  • Colorectal cancer
  • Acute myeloid leukemia
  • Uveal melanoma