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Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034
Congenital myaesthenic syndrome v1.41 COLQ Louise Daugherty commented on gene: COLQ: PMID:10665486;9689136;18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages;PMID:10441569
Congenital myaesthenic syndrome v1.41 COLQ Louise Daugherty Publications for gene: COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages; 10441569
Congenital myaesthenic syndrome v1.34 COLQ Louise Daugherty reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 COLQ Michael Oldridge reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency, Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 COLQ Louise Daugherty Source NHS GMS was added to COLQ.
Congenital myaesthenic syndrome v1.12 COLQ Louise Daugherty Source Wessex and West Midlands GLH was added to COLQ.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome COLQ Rebecca Foulger commented on COLQ
Congenital myaesthenic syndrome COLQ Rebecca Foulger marked COLQ as ready
Congenital myaesthenic syndrome COLQ Rebecca Foulger classified COLQ as green
Congenital myaesthenic syndrome COLQ Rebecca Foulger edited their review of COLQ
Congenital myaesthenic syndrome COLQ Rebecca Foulger commented on COLQ
Congenital myaesthenic syndrome COLQ David Beeson reviewed COLQ