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Incidentalome v0.291 MBD4 Bryony Thompson Tag cancer tag was added to gene: MBD4.
Incidentalome v0.93 MBD4 Alison Yeung Publications for gene: MBD4 were set to 35460607
Incidentalome v0.93 MBD4 Alison Yeung Publications for gene: MBD4 were set to 35460607
Incidentalome v0.92 MBD4 Alison Yeung Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf; 35460607
Incidentalome v0.92 MBD4 Alison Yeung Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf
Incidentalome v0.91 MBD4 Alison Yeung Phenotypes for gene: MBD4 were changed from AML and colorectal polyps; MBD4-associated neoplasia syndrome to Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356
Incidentalome v0.90 MBD4 Chern Lim edited their review of gene: MBD4: Added comment: 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.; Changed rating: GREEN
Incidentalome v0.90 MBD4 Alison Yeung Classified gene: MBD4 as Green List (high evidence)
Incidentalome v0.90 MBD4 Alison Yeung Gene: mbd4 has been classified as Green List (High Evidence).
Incidentalome v0.89 MBD4 Chern Lim reviewed gene: MBD4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:35460607; Phenotypes: Adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Incidentalome v0.67 MBD4 Zornitza Stark Marked gene: MBD4 as ready
Incidentalome v0.67 MBD4 Zornitza Stark Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.67 MBD4 Zornitza Stark Classified gene: MBD4 as Amber List (moderate evidence)
Incidentalome v0.67 MBD4 Zornitza Stark Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.66 MBD4 Zornitza Stark 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
Added comment: Three individuals reported with bi-allelic LOF and rare combination of AML and adenomatous colorectal polyps.
Sources: Literature