Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ehlers Danlos syndromes v0.1 | DSE | Bryony Thompson Added phenotypes Musculocontractural EDS; ?Ehlers Danlos syndrome, musculocontractural type 2, 615539 for gene: DSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ehlers Danlos syndromes v0.0 | DSE |
Bryony Thompson gene: DSE was added gene: DSE was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSE were set to Musculocontractural EDS; ?Ehlers Danlos syndrome, musculocontractural type 2, 615539 |