Genomics England

ALG14

ALG14, UDP-N-acetylglucosaminyltransferase subunit

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Green in Congenital myaesthenic syndrome Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R80 Signed-off version 4.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital myasthenic syndrome, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)