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Skeletal dysplasia v1.153 EIF2AK3 Eleanor Williams Added phenotypes Wolcott-Rallison syndrome 226980 for gene: EIF2AK3
Skeletal dysplasia v1.147 EIF2AK3 Tracy Lester reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolcott-Rallison syndrome 226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 EIF2AK3 Eleanor Williams reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 EIF2AK3 Eleanor Williams Source NHS GMS was added to EIF2AK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)