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Skeletal dysplasia v1.153 | LONP1 | Eleanor Williams Added phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 for gene: LONP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | LONP1 | Tracy Lester reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | LONP1 | Eleanor Williams reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | LONP1 |
Eleanor Williams Source NHS GMS was added to LONP1. Rating Changed from Green List (high evidence) to Green List (high evidence) |