| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mandibulofacial Acrofacial dysostosis v2.5 | LMNA | chirag patel Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v2.5 | LMNA | chirag patel Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v2.5 | LMNA | chirag patel Classified gene: LMNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v2.5 | LMNA | chirag patel Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v2.4 | LMNA |
chirag patel gene: LMNA was added gene: LMNA was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNA were set to 12075506, 14627682, 12788894, 17848409 Phenotypes for gene: LMNA were set to Mandibuloacral dysplasia with type A lipodystrophy, MONDO:0009557 Review for gene: LMNA was set to GREEN Added comment: Established association with multiple phenotypes. Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. Sources: Literature |
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