Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: ITSN2

Green List (high evidence)

ITSN2 (intersectin 2)
EnsemblGeneIds (GRCh38): ENSG00000198399
EnsemblGeneIds (GRCh37): ENSG00000198399
OMIM: 604464, Gene2Phenotype
ITSN2 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 20 Oct 2020, 12:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome

Publications

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
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 Mendeliome. 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