Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GFPT1Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:24 p.m. | Last Modified: 28 Nov 2019, 5:24 p.m.
Panel Version: 1.171
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:24 p.m. | Last Modified: 28 Nov 2019, 5:24 p.m.
Panel Version: 1.170
CMS gene.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia, congenital, 12, with tubular aggregates, 610542
Publications
Gene: gfpt1 has been classified as Red List (Low Evidence).
Gene: gfpt1 has been classified as Red List (Low Evidence).
Gene: gfpt1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to GFPT1.
Source Yorkshire and North East GLH was added to GFPT1.
Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 to Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital myasthenic syndrome
Mode of inheritance for gene GFPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1 Publications for gene GFPT1 were changed from to 21310273
gene: GFPT1 was added gene: GFPT1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: GFPT1 was set to