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Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Congenital myaesthenic syndrome v1.34 MUSK Louise Daugherty reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 MUSK Michael Oldridge reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325, Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 MUSK Louise Daugherty Source NHS GMS was added to MUSK.
Congenital myaesthenic syndrome v1.12 MUSK Louise Daugherty Source Wessex and West Midlands GLH was added to MUSK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome MUSK Rebecca Foulger marked MUSK as ready
Congenital myaesthenic syndrome MUSK Rebecca Foulger commented on MUSK
Congenital myaesthenic syndrome MUSK Rebecca Foulger edited their review of MUSK
Congenital myaesthenic syndrome MUSK Rebecca Foulger commented on MUSK
Congenital myaesthenic syndrome MUSK David Beeson reviewed MUSK