Incidentalome

Gene: MBD4

Green List (high evidence)

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma.

PMID:35381620: A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

Created: 5 May 2022, 1:30 a.m. | Last Modified: 5 May 2022, 1:30 a.m.

Panel Version: 0.90

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma.

Created: 5 May 2022, 1:18 a.m. | Last Modified: 5 May 2022, 1:18 a.m.

Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma

Publications

• PMID:35460607

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Three individuals reported with bi-allelic LOF and rare combination of AML and adenomatous colorectal polyps.
Sources: Literature

Created: 22 May 2021, 7:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AML and colorectal polyps; MBD4-associated neoplasia syndrome

Publications

• https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf