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| Bone Marrow Failure v0.61 | MECOM | Zornitza Stark Mode of pathogenicity for gene: MECOM was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.60 | MECOM |
Ain Roesley changed review comment from: PMID: 29146883; 6 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT). Mutational spectrum: 2 missense, 2 frameshifts, 1 nonsense and 1 splice; to: PMID: 29146883; 5 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT). Mutational spectrum: 1 missense, 2 frameshifts, 1 nonsense and 1 splice |
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| Bone Marrow Failure v0.60 | MECOM | Zornitza Stark Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.59 | MECOM | Zornitza Stark Publications for gene: MECOM were set to 26581901; 29519864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.58 | MECOM | Ain Roesley reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29146883; Phenotypes: bone marrow failure without radioulnar synostosis (RUS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.46 | MECOM | Zornitza Stark Publications for gene: MECOM were set to 26581901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.45 | MECOM | Kristin Rigbye reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901, 29519864; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.2 | MECOM | Zornitza Stark Classified gene: MECOM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.2 | MECOM | Zornitza Stark Gene: mecom has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.1 | MECOM | Zornitza Stark Marked gene: MECOM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.1 | MECOM | Zornitza Stark Gene: mecom has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.1 | MECOM |
Zornitza Stark gene: MECOM was added gene: MECOM was added to Bone Marrow Failure_VCGS. Sources: Expert Review Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MECOM were set to 26581901 Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 Review for gene: MECOM was set to GREEN gene: MECOM was marked as current diagnostic Added comment: Multiple affected families reported, syndromic features tend to cluster with mutations in a particular domain. Non-syndromic presentations well described. Sources: Expert Review |
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