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Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Myasthenic syndrome, slow-channel congenital, 601462;Congenital Myasthenic Syndrome, Dominant/Recessive
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Congenital Myasthenic Syndrome, Dominant/Recessive to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314; Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Added comment: Comment on publications: In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; 8651643; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v1.34 CHRNB1 Louise Daugherty reviewed gene: CHRNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 CHRNB1 Michael Oldridge reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314, Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, Myasthenic syndrome, slow-channel congenital, 601462, Congenital Myasthenic Syndrome, Dominant/Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 CHRNB1 Louise Daugherty Source NHS GMS was added to CHRNB1.
Congenital myaesthenic syndrome v1.12 CHRNB1 Louise Daugherty Source Wessex and West Midlands GLH was added to CHRNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome CHRNB1 Rebecca Foulger edited their review of CHRNB1
Congenital myaesthenic syndrome CHRNB1 Rebecca Foulger marked CHRNB1 as ready
Congenital myaesthenic syndrome CHRNB1 Rebecca Foulger commented on CHRNB1
Congenital myaesthenic syndrome CHRNB1 David Beeson reviewed CHRNB1