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Congenital myaesthenic syndrome v1.56 PREPL Louise Daugherty edited their review of gene: PREPL: Changed rating: RED
Congenital myaesthenic syndrome v1.56 PREPL Louise Daugherty commented on gene: PREPL: Leave as Red, awaiting more information on this gene and potential disease association.
Congenital myaesthenic syndrome v1.34 PREPL Louise Daugherty reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.23 PREPL Louise Daugherty Publications for gene: PREPL were set to 29483676; 28726805
Congenital myaesthenic syndrome v1.21 PREPL Louise Daugherty Publications for gene PREPL were changed from 24610330; 27472506 (Review) to 29483676; 28726805
Congenital myaesthenic syndrome v1.14 PREPL 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
Congenital myaesthenic syndrome v1.13 PREPL Louise Daugherty Source NHS GMS was added to PREPL.
Congenital myaesthenic syndrome v1.12 PREPL Louise Daugherty Source Wessex and West Midlands GLH was added to PREPL.
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL