| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Radial Ray Abnormalities v1.2 | MECOM | Zornitza Stark Marked gene: MECOM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.2 | MECOM | Zornitza Stark Gene: mecom has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.2 | MECOM | Chirag Patel Classified gene: MECOM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.2 | MECOM | Chirag Patel Gene: mecom has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.2 | MECOM | Chirag Patel Classified gene: MECOM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.2 | MECOM | Chirag Patel Gene: mecom has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.1 | MECOM |
Chirag Patel gene: MECOM was added gene: MECOM was added to Radial Ray Abnormalities. Sources: Literature Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864 Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM # Review for gene: MECOM was set to GREEN Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 -Multiple affected families reported Radioulnar synostosis (RUS) without hematological aberration -8 families with RUS and no identifiable hematological abnormalities -WES identified unique missense variants in MECOM -6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1. -Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses. Sources: Literature |
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