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Congenital myaesthenic syndrome v2.29 | RAPSN |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset |
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Congenital myaesthenic syndrome v2.29 | RAPSN | Ivone Leong Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.34 | RAPSN | Louise Daugherty reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.14 | RAPSN | Michael Oldridge reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326, acute respiratory crises, late and early onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.13 | RAPSN | Louise Daugherty Source NHS GMS was added to RAPSN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.12 | RAPSN |
Louise Daugherty Source Wessex and West Midlands GLH was added to RAPSN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital myaesthenic syndrome | RAPSN | Rebecca Foulger marked RAPSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome | RAPSN | Rebecca Foulger commented on RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome | RAPSN | Rebecca Foulger edited their review of RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome | RAPSN | Rebecca Foulger commented on RAPSN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome | RAPSN | David Beeson reviewed RAPSN |