Genomics England
GMS Panels
Panels
Genes and Entities

GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
OMIM: 603824
PanelMode of inheritanceDetails
6 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 4.0
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 7.0
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
  • - Other rare neuromuscular disorders
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonaka myopathy, 605820
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 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Sialuria OMIM:269921, sialuria MONDO:0010028, Nonaka myopathy OMIM:605820, GNE myopathy MONDO:0011603
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 5.0
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 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Sialuria OMIM:269921, sialuria MONDO:0010028, Nonaka myopathy OMIM:605820, GNE myopathy MONDO:0011603