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Skeletal dysplasia v1.153 DIS3L2 Eleanor Williams Added phenotypes Perlman syndrome 267000 for gene: DIS3L2
Publications for gene DIS3L2 were changed from to 22306653
Skeletal dysplasia v1.147 DIS3L2 Tracy Lester reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22306653; Phenotypes: Perlman syndrome 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 DIS3L2 Eleanor Williams reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 DIS3L2 Eleanor Williams Source NHS GMS was added to DIS3L2.
Rating Changed from Green List (high evidence) to Green List (high evidence)