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Motor Neurone Disease

Gene: GNE

Red List (low evidence)
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants associated with Sialuria, which is characterised by excessive synthesis of free sialic acid. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay. Over 10 unrelated individuals reported. Bi-allelic variants associated with a myopathy phenotype, more than 30 unrelated families reported.
Created: 21 Dec 2020, 8:13 a.m. | Last Modified: 21 Dec 2020, 8:13 a.m.
Panel Version: 0.5753

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

Publications

Created: 21 Dec 2020, 8:13 a.m.
Last Modified: 21 Dec 2020, 8:13 a.m.
Panel version: Imported from Mendeliome panel version 0.5753

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported with ALS
Sources: Expert list
Created: 31 Mar 2020, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis

Publications

Created: 31 Mar 2020, 8:11 a.m.

Panel version: 0.24

History Filter Activity

31 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GNE was added gene: GNE was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 29086072 Phenotypes for gene: GNE were set to Amyotrophic lateral sclerosis Review for gene: GNE was set to RED