Incidentalome

Gene: MBD4

Green List (high evidence)

MBD4 (methyl-CpG binding domain 4, DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000129071
EnsemblGeneIds (GRCh37): ENSG00000129071
OMIM: 603574, Gene2Phenotype
MBD4 is in 2 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356
Tags
cancer
OMIM
603574
Clinvar variants
Variants in MBD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag cancer tag was added to gene: MBD4.

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: MBD4 were set to 35460607

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: MBD4 were set to 35460607

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf; 35460607

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf

5 May 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MBD4 were changed from AML and colorectal polyps; MBD4-associated neoplasia syndrome to Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: mbd4 has been classified as Green List (High Evidence).

22 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbd4 has been classified as Amber List (Moderate Evidence).

22 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbd4 has been classified as Amber List (Moderate Evidence).

22 May 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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