Proteinuric renal disease
Gene: ITSN2
ITSN2 (intersectin 2)
EnsemblGeneIds (GRCh38): ENSG00000198399
EnsemblGeneIds (GRCh37): ENSG00000198399
OMIM: 604464, Gene2Phenotype
ITSN2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000198399
EnsemblGeneIds (GRCh37): ENSG00000198399
OMIM: 604464, Gene2Phenotype
ITSN2 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: ITSN2; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 29773874; Other comments: Amber: One paper (PMID: 29773874) reports three patients from two unrelated families with nephrotic syndrome and rare AR ITSN2 variantsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early childhood SSNS
Publications
- PMID: 29773874
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Early childhood SSNS
- OMIM
- 604464
- Clinvar variants
- Variants in ITSN2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ITSN2 were changed from to Early childhood SSNS
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ITSN2 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ITSN2 was added gene: ITSN2 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: ITSN2 was set to