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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 |
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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) |
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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 |