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Skeletal dysplasia v1.153 | POC1A |
Eleanor Williams Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 for gene: POC1A Publications for gene POC1A were changed from 26162852; 26336158; 26374189 to 26374189; 26162852; 26336158 |
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Skeletal dysplasia v1.147 | POC1A | Tracy Lester reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26162852, 26336158, 26374189; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | POC1A | Eleanor Williams reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | POC1A |
Eleanor Williams Source NHS GMS was added to POC1A. Rating Changed from Green List (high evidence) to Green List (high evidence) |