Bone Marrow Failure
Gene: MDM4EnsemblGeneIds (GRCh38): ENSG00000198625
EnsemblGeneIds (GRCh37): ENSG00000198625
OMIM: 602704, Gene2Phenotype
MDM4 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family was reported to segregate a missense variant (p.Thr454Met) with features suggestive of dyskeratosis congenita, e.g., bone marrow hypocellularity, short telomeres, tongue squamous cell carcinoma, and acute myeloid leukemia. A mouse model of p.Thr454Met showed increased p53 activity, decreased telomere length, and bone marrow failure.
Sources: OtherCreated: 14 Nov 2023, 12:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
bone marrow failure syndrome MONDO:0000159, MDM4-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- bone marrow failure syndrome MONDO:0000159, MDM4-related
- OMIM
- 602704
- Clinvar variants
- Variants in MDM4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mdm4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mdm4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MDM4 was added gene: MDM4 was added to Bone Marrow Failure. Sources: Other Mode of inheritance for gene: MDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MDM4 were set to 32300648; 33104793 Phenotypes for gene: MDM4 were set to bone marrow failure syndrome MONDO:0000159, MDM4-related Review for gene: MDM4 was set to AMBER