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Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300
Congenital myaesthenic syndrome v1.40 DOK7 Louise Daugherty Deleted their comment
Congenital myaesthenic syndrome v1.40 DOK7 Louise Daugherty commented on gene: DOK7: PMID:16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300). PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Congenital myaesthenic syndrome v1.40 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 16917026; 17452375; 22661499; 18626973
Congenital myaesthenic syndrome v1.38 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 16917026; 17452375; 22661499
Congenital myaesthenic syndrome v1.37 DOK7 Louise Daugherty commented on gene: DOK7: PMID: 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Congenital myaesthenic syndrome v1.37 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); 17452375; 22661499; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Congenital myaesthenic syndrome v1.34 DOK7 Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 DOK7 Michael Oldridge reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, 254300, Myasthenia, limb-girdle, familial, Limb girdle congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Congenital myaesthenic syndrome v1.12 DOK7 Louise Daugherty Source Wessex and West Midlands GLH was added to DOK7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome DOK7 Rebecca Foulger edited their review of DOK7
Congenital myaesthenic syndrome DOK7 Rebecca Foulger marked DOK7 as ready
Congenital myaesthenic syndrome DOK7 Rebecca Foulger commented on DOK7
Congenital myaesthenic syndrome DOK7 David Beeson edited their review of DOK7
Congenital myaesthenic syndrome DOK7 David Beeson reviewed DOK7