Cytopenia - NOT Fanconi anaemia
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
1 review
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Historically associated with myopathy but recently identified in at least 9 children with thrombocytopenia in the absence of muscle wasting. Yilmaz 2019; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Nonaka myopathy, 605820
- OMIM
- 603824
- Clinvar variants
- Variants in GNE
- Penetrance
- None
- 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
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to GNE.
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to GNE.
4 Nov 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene GNE was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nonaka myopathy, 605820 for gene: GNE
4 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GNE was added gene: GNE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: GNE was set to