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Intellectual disability

Gene: GNE

No list

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 15 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Metabolic disorder with varying degrees of ID being a feature.
Bi-allelic variants cause Nonaka myopathy, MIM#605820
Sources: Expert list
Created: 6 Feb 2020, 8:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sialuria, MIM#269921

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GNE was added gene: GNE was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: GNE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNE were set to Sialuria, MIM#269921 Review for gene: GNE was set to GREEN gene: GNE was marked as current diagnostic