Proteinuria
Gene: ITSN2
ITSN2 (intersectin 2)
EnsemblGeneIds (GRCh38): ENSG00000198399
EnsemblGeneIds (GRCh37): ENSG00000198399
OMIM: 604464, Gene2Phenotype
ITSN2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000198399
EnsemblGeneIds (GRCh37): ENSG00000198399
OMIM: 604464, Gene2Phenotype
ITSN2 is in 2 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 29773874: 2 families (3 patients) with homozygous missense or chet missense/PTC + null mice recapitulating the human phenotype.
Functional analysis of all variants shows an inability for Cdc42 activation as shown by wildtype overexpression
Sources: LiteratureCreated: 20 Oct 2020, 12:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome
Publications
- PMID: 29773874
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Nephrotic syndrome
- OMIM
- 604464
- Clinvar variants
- Variants in ITSN2
- Penetrance
- None
- Publications
-
- PMID: 29773874
- Panels with this gene
History Filter Activity
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: itsn2 has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: itsn2 has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: ITSN2 was added gene: ITSN2 was added to Proteinuria. Sources: Literature Mode of inheritance for gene: ITSN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITSN2 were set to PMID: 29773874 Phenotypes for gene: ITSN2 were set to Nephrotic syndrome Review for gene: ITSN2 was set to GREEN