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Skeletal dysplasia v1.153 | PYCR1 | Eleanor Williams Added phenotypes Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438 for gene: PYCR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PYCR1 | Tracy Lester reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB 612940, Cutis laxa, autosomal recessive, type IIIB 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PYCR1 | Eleanor Williams reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PYCR1 |
Eleanor Williams Source NHS GMS was added to PYCR1. Rating Changed from Green List (high evidence) to Green List (high evidence) |