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Skeletal dysplasia v1.153 | ESCO2 | Eleanor Williams Added phenotypes SC phocomelia syndrome 269000; Roberts syndrome 268300 for gene: ESCO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ESCO2 | Tracy Lester reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Roberts syndrome 268300, SC phocomelia syndrome 269000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ESCO2 | Eleanor Williams reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ESCO2 |
Eleanor Williams Source NHS GMS was added to ESCO2. Rating Changed from Green List (high evidence) to Green List (high evidence) |