Proteinuric renal disease
Gene: NEIL1
NEIL1 (nei like DNA glycosylase 1)
EnsemblGeneIds (GRCh38): ENSG00000140398
EnsemblGeneIds (GRCh37): ENSG00000140398
OMIM: 608844, Gene2Phenotype
NEIL1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000140398
EnsemblGeneIds (GRCh37): ENSG00000140398
OMIM: 608844, Gene2Phenotype
NEIL1 is in 1 panel
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: NEIL1; Suggested initial gene rating: red; Evidence for inclusion: PMID: 21697813; Other comments: 1 family in one publication with rare AR NEIL1 variantsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SRNS
Publications
- PMID: 21697813
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- SRNS
- OMIM
- 608844
- Clinvar variants
- Variants in NEIL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NEIL1 were changed from to SRNS
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NEIL1 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NEIL1 was added gene: NEIL1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NEIL1 was set to