MBD4

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber MBD4 in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.22

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


Version 2.10
Latest signed off version: v2.0 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • 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)


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Multi-organ tumour predisposition syndrome
  • Adenomatous colorectal polyposis
  • Colorectal cancer
  • Acute myeloid leukemia
  • Uveal melanoma
Red MBD4 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green MBD4 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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