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Congenital myopathy v3.80 ORAI1 Arina Puzriakova Phenotypes for gene: ORAI1 were changed from Myopathy, tubular aggregate, 2 615883 to Myopathy, tubular aggregate, 2, OMIM:615883
Congenital myopathy v1.120 ORAI1 Rachael Mein edited their review of gene: ORAI1: Changed publications: 28058752, 25227914; Changed phenotypes: Myopathy, tubular aggregate, 2 615883
Congenital myopathy v1.76 ORAI1 Louise Daugherty reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 ORAI1 Rachael Mein reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21063730; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Congenital myopathy v1.73 ORAI1 Louise Daugherty Source London South GLH was added to ORAI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy ORAI1 Anna Sarkozy reviewed ORAI1
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy ORAI1 Helen Brittain classified ORAI1 as green
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy ORAI1 Helen Brittain reviewed ORAI1