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Congenital myaesthenic syndrome v1.56
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PREPL
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Louise Daugherty edited their review of gene: PREPL: Changed rating: RED
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Congenital myaesthenic syndrome v1.56
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PREPL
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Louise Daugherty commented on gene: PREPL: Leave as Red, awaiting more information on this gene and potential disease association.
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Congenital myaesthenic syndrome v1.34
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PREPL
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Louise Daugherty reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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Congenital myaesthenic syndrome v1.23
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PREPL
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Louise Daugherty Publications for gene: PREPL were set to 29483676; 28726805
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Congenital myaesthenic syndrome v1.21
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PREPL
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Louise Daugherty Publications for gene PREPL were changed from 24610330; 27472506 (Review) to 29483676; 28726805
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Congenital myaesthenic syndrome v1.14
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PREPL
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Michael Oldridge reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 29483676, 28726805; Phenotypes: myasthenic syndrome, congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency, ?Myasthenic syndrome, congenital, 22, 616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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Congenital myaesthenic syndrome v1.13
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PREPL
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Louise Daugherty Source NHS GMS was added to PREPL.
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Congenital myaesthenic syndrome v1.12
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PREPL
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Louise Daugherty Source Wessex and West Midlands GLH was added to PREPL.
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Congenital myaesthenic syndrome
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PREPL
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Rebecca Foulger commented on PREPL
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Congenital myaesthenic syndrome
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PREPL
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Rebecca Foulger commented on PREPL
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Congenital myaesthenic syndrome
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PREPL
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Rebecca Foulger commented on PREPL
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Congenital myaesthenic syndrome
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PREPL
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Rebecca Foulger commented on PREPL
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