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Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 1A, slow-channel, 601462;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Phenotypes for gene: CHRNA1 were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome to Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462; Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Added comment: Comment on publications: PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Publications for gene: CHRNA1 were set to 7619526; 15034283; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v1.34 CHRNA1 Louise Daugherty reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 CHRNA1 Michael Oldridge reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, congenital, 1A, slow-channel, 601462, Myasthenic syndrome, congenital, 1B, fast-channel, 608930, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 CHRNA1 Louise Daugherty Source NHS GMS was added to CHRNA1.
Congenital myaesthenic syndrome v1.12 CHRNA1 Louise Daugherty Source Wessex and West Midlands GLH was added to CHRNA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome CHRNA1 Rebecca Foulger marked CHRNA1 as ready
Congenital myaesthenic syndrome CHRNA1 Rebecca Foulger commented on CHRNA1
Congenital myaesthenic syndrome CHRNA1 David Beeson commented on CHRNA1
Congenital myaesthenic syndrome CHRNA1 David Beeson reviewed CHRNA1