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Skeletal dysplasia v1.153 | AMER1 | Eleanor Williams Added phenotypes Osteopathia striata with cranial sclerosis 300373 for gene: AMER1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | AMER1 | Tracy Lester reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopathia striata with cranial sclerosis 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | AMER1 | Eleanor Williams reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | AMER1 |
Eleanor Williams Source NHS GMS was added to AMER1. Rating Changed from Green List (high evidence) to Green List (high evidence) |