Genomics England

ALG9

ALG9, alpha-1,2-mannosyltransferase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ALG9-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Il 608776, Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes cystic liver disease, cystic kidney disease, Gillessen-Kaesbach-Nishimura syndrome, 263210
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation type Il 608776
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Gillessen-Kaesbach-Nishimura syndrome, 263210, AR lethal skeletal dysplasia, ALG9-CDG, Congenital disorder of glycosylation, type Il, 608776, NIHF, hydops fetalis
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Developmental delay, Congenital disorder of glycosylation, type Il 608776, Gillessen-Kaesbach-Nishimura syndrome 263210
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation), ALG9-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Il 608776
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210, Congenital disorder of glycosylation, type Il 608776, Gillessen-Kaesbach-Nishimura syndrome 263210