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Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323; Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Congenital myaesthenic syndrome v1.36 CHRND Louise Daugherty Publications for gene: CHRND were set to 16916845
11782989
11435464
Congenital myaesthenic syndrome v1.34 CHRND Louise Daugherty reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 CHRND Michael Oldridge reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323, Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 CHRND Louise Daugherty Source NHS GMS was added to CHRND.
Congenital myaesthenic syndrome v1.12 CHRND Louise Daugherty Source Wessex and West Midlands GLH was added to CHRND.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome CHRND Rebecca Foulger marked CHRND as ready
Congenital myaesthenic syndrome CHRND Rebecca Foulger commented on CHRND
Congenital myaesthenic syndrome CHRND David Beeson reviewed CHRND