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Date	Panel	Item	Activity
Filter activities 5 actions
04 Mar 2024	Skeletal dysplasia v4.53	SMARCAL1	Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900; Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900
06 May 2019	Skeletal dysplasia v1.153	SMARCAL1	Eleanor Williams Added phenotypes Schimke immunoosseous dysplasia 242900 for gene: SMARCAL1
06 Mar 2019	Skeletal dysplasia v1.147	SMARCAL1	Tracy Lester reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Schimke immunoosseous dysplasia 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Mar 2019	Skeletal dysplasia v1.146	SMARCAL1	Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Mar 2019	Skeletal dysplasia v1.145	SMARCAL1	Eleanor Williams Source NHS GMS was added to SMARCAL1. Rating Changed from Green List (high evidence) to Green List (high evidence)