This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: GNE
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000159921
EnsemblGeneIds (GRCh37): ENSG00000159921
OMIM: 603824, Gene2Phenotype
GNE is in 14 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Only three reported casesCreated: 24 Nov 2016, 10:42 a.m.
Alice Gardham (North West Thames Genetics)
Low number of reported cases identified but mutations identified in at least three unaffected individuals. However, no parental studies were carried out to confirm mutations were de novoCreated: 30 Jan 2016, 2:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sialuria, 269921
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Sialuria
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- Complete
- Panels with this gene
-
- Distal myopathies
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
- Cytopenia - NOT Fanconi anaemia
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Bleeding and platelet disorders
- Congenital myopathy
- Undiagnosed metabolic disorders
- Inherited bleeding disorders
- DDG2P
History Filter Activity
24 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)GNE was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)GNE was created by alicegardham