| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bone Marrow Failure v1.56 | MDM4 | Bryony Thompson Marked gene: MDM4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.56 | MDM4 | Bryony Thompson Gene: mdm4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.56 | MDM4 | Bryony Thompson Classified gene: MDM4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.56 | MDM4 | Bryony Thompson Gene: mdm4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.55 | MDM4 |
Bryony Thompson 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 Added comment: 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 |
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