Bone Marrow Failure
Gene: MBD4EnsemblGeneIds (GRCh38): ENSG00000129071
EnsemblGeneIds (GRCh37): ENSG00000129071
OMIM: 603574, Gene2Phenotype
MBD4 is in 2 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.
PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination
PMID:35381620 (reviewed by Dr Chern Lim): 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.
PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual.
Sources: Literature, Expert ReviewCreated: 14 Dec 2022, 6 a.m. | Last Modified: 14 Dec 2022, 6:06 a.m.
Panel Version: 1.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumor predisposition syndrome 2 - MIM#619975; Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Literature
- Phenotypes
-
- Tumor predisposition syndrome 2 - MIM#619975
- Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma
- OMIM
- 603574
- Clinvar variants
- Variants in MBD4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mbd4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mbd4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: MBD4 was added gene: MBD4 was added to Bone Marrow Failure. Sources: Literature,Expert Review Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBD4 were set to PMID: 30049810; PMID:35460607; PMID:35381620 Phenotypes for gene: MBD4 were set to Tumor predisposition syndrome 2 - MIM#619975; Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Review for gene: MBD4 was set to GREEN