Incidentalome
Gene: MBD4
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
Variants in this GENE are reported as part of current diagnostic practice
Three individuals reported with bi-allelic LOF and rare combination of AML and adenomatous colorectal polyps.
Sources: LiteratureCreated: 22 May 2021, 7:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AML and colorectal polyps; MBD4-associated neoplasia syndrome
Publications
Tag cancer tag was added to gene: MBD4.
Publications for gene: MBD4 were set to 35460607
Publications for gene: MBD4 were set to 35460607
Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf; 35460607
Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf
Phenotypes for gene: MBD4 were changed from AML and colorectal polyps; MBD4-associated neoplasia syndrome to Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356
Gene: mbd4 has been classified as Green List (High Evidence).
Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Gene: mbd4 has been classified as Amber List (Moderate Evidence).
gene: MBD4 was added gene: MBD4 was added to Incidentalome. Sources: Literature Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf Phenotypes for gene: MBD4 were set to AML and colorectal polyps; MBD4-associated neoplasia syndrome Review for gene: MBD4 was set to AMBER