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Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;tubular aggregates
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Phenotypes for gene: GFPT1 were changed from Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Congenital myaesthenic syndrome v1.39 GFPT1 Louise Daugherty commented on gene: GFPT1: PMID:21975507;In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous.
Congenital myaesthenic syndrome v1.39 GFPT1 Louise Daugherty Publications for gene: GFPT1 were set to 21975507; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109; 23569079
Congenital myaesthenic syndrome v1.34 GFPT1 Louise Daugherty reviewed gene: GFPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 GFPT1 Michael Oldridge reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Myasthenia, congenital, 12, with tubular aggregates, 610542, Limb-girdle congenital myasthenic syndrome, tubular aggregates; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 GFPT1 Louise Daugherty Source NHS GMS was added to GFPT1.
Congenital myaesthenic syndrome v1.12 GFPT1 Louise Daugherty Source Wessex and West Midlands GLH was added to GFPT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome GFPT1 Rebecca Foulger edited their review of GFPT1
Congenital myaesthenic syndrome GFPT1 Rebecca Foulger marked GFPT1 as ready
Congenital myaesthenic syndrome GFPT1 Rebecca Foulger commented on GFPT1
Congenital myaesthenic syndrome GFPT1 David Beeson reviewed GFPT1