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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 |
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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) |
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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 |