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Skeletal dysplasia v1.153 | B4GALT7 | Eleanor Williams Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 for gene: B4GALT7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | B4GALT7 | Tracy Lester reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ehlers-Danlos syndrome with short stature and limb anomalies 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | B4GALT7 | Eleanor Williams reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | B4GALT7 |
Eleanor Williams Source NHS GMS was added to B4GALT7. Rating Changed from Green List (high evidence) to Green List (high evidence) |