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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 |
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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 |
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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) |
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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 |