Genomics England

GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes (NO OMIM NUMBER), Myopathy associated with thrombocytopenia
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nonaka myopathy 605820, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders Signed-off version 1.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nonaka myopathy, 605820
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nonaka myopathy 605820, Sialuria (Other lysosomal disorders), UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways), ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Green in Limb girdle muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders R-numbers: R82 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nonaka myopathy, 605820, Distal myopathy, Limb girdle muscular dystrophy, Limb-girdle muscular dystrophy, quadriceps sparing myopathy, distal myopathy, Nonaka myopathy, HIBM
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sialuria 269921 (AD), Nonaka myopathy 605820