Proteinuric renal disease
Gene: NEU1
NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: NEU1; Suggested initial gene rating: red; Evidence for inclusion: PMID: 30450471; Other comments: 1 patient in the literature with rare AR NEU1 variantsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SRNS
Publications
- PMID: 30450471
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- SRNS
- OMIM
- 608272
- Clinvar variants
- Variants in NEU1
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Monogenic hearing loss
- Skeletal dysplasia
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
24 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NEU1 were changed from to SRNS
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NEU1 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NEU1 was added gene: NEU1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NEU1 was set to