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| Skeletal dysplasia v1.217 | ASXL1 |
Eleanor Williams changed review comment from: Associated with Bohring-Opitz syndrome #605039 (AD) in OMIM. Clinical features listed include short stature and a number of skeletal features including upper limb rhizomelia.; to: Associated with Bohring-Opitz syndrome #605039 (AD) in OMIM. Clinical features listed include short stature and a number of skeletal features including upper limb rhizomelia. Genomics England clinical team feel that there are sufficient relevant phenotypes to leave green. |
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| Skeletal dysplasia v1.217 | ASXL1 | Eleanor Williams commented on gene: ASXL1: Associated with Bohring-Opitz syndrome #605039 (AD) in OMIM. Clinical features listed include short stature and a number of skeletal features including upper limb rhizomelia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | ASXL1 | Eleanor Williams Added phenotypes Bohring-Opitz syndrome 605039 for gene: ASXL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ASXL1 | Tracy Lester reviewed gene: ASXL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bohring-Opitz syndrome 605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | ASXL1 | Eleanor Williams reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | ASXL1 |
Eleanor Williams Source NHS GMS was added to ASXL1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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