| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal Dysplasia_Fetal v0.180 | GSC | Zornitza Stark Marked gene: GSC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.180 | GSC | Zornitza Stark Gene: gsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.180 | GSC | Zornitza Stark Classified gene: GSC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.180 | GSC | Zornitza Stark Gene: gsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.173 | GSC |
Krithika Murali gene: GSC was added gene: GSC was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSC were set to PMID: 24290375 Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471 Review for gene: GSC was set to GREEN Added comment: Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition. Sources: Literature |
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