Inherited bleeding 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
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy associated with thrombocytopenia
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy associated with thrombocytopenia
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Myopathy associated with thrombocytopenia
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- Complete
- Panels with this gene
-
- Inherited bleeding disorders
- Distal myopathies
- Lysosomal storage disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- DDG2P
- Arthrogryposis
- Congenital myopathy
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)GNE was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GNE was created by ellenmcdonagh
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GNE was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene