| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arthrogryposis v0.654 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.654 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.654 | GAD1 | Zornitza Stark Classified gene: GAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.654 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.653 | GAD1 |
Zornitza Stark gene: GAD1 was added gene: GAD1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 32282878 Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy 89, MIM# 619124 Review for gene: GAD1 was set to GREEN Added comment: Eight of the 11 affected individuals reported in the gene discovery paper had joint contractures. Sources: Literature |
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