Bone Marrow Failure

Gene: MDM4

Amber List (moderate evidence)

MDM4 (MDM4, p53 regulator)
EnsemblGeneIds (GRCh38): ENSG00000198625
EnsemblGeneIds (GRCh37): ENSG00000198625
OMIM: 602704, Gene2Phenotype
MDM4 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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: Other
Created: 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

14 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mdm4 has been classified as Amber List (Moderate Evidence).

14 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mdm4 has been classified as Amber List (Moderate Evidence).

14 Nov 2023, Gel status: 1

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