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Proteinuria

Gene: ITSN1

Green List (high evidence)
ITSN1 (intersectin 1)
EnsemblGeneIds (GRCh38): ENSG00000205726
EnsemblGeneIds (GRCh37): ENSG00000205726
OMIM: 602442, Gene2Phenotype
ITSN1 is in 3 panels

3 reviews

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

-10 individuals from eight unrelated families with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment.
-variants included heterozygous premature truncating and missense variants
-Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father
Created: 2 Feb 2022, 12:09 a.m. | Last Modified: 2 Feb 2022, 12:09 a.m.
Panel Version: 0.10849

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, ITSN1-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Feb 2022, 12:09 a.m.
Last Modified: 2 Feb 2022, 12:09 a.m.
Panel version: Imported from Mendeliome panel version 0.10849

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Expert list
Created: 9 Jan 2020, 9:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome

Publications

Created: 9 Jan 2020, 9:37 a.m.

Panel version: Imported from Mendeliome panel version 0.10280

Chirag Patel (Genetic Health Queensland)

3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Literature
Created: 9 Jan 2020, 3:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early childhood SSNS

Publications

Created: 9 Jan 2020, 3:39 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Nephrotic syndrome
OMIM
602442
Clinvar variants
Variants in ITSN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITSN1 were changed from Early childhood SSNS to Nephrotic syndrome

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itsn1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: itsn1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: itsn1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: itsn1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: itsn1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: itsn1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: ITSN1 was added gene: ITSN1 was added to Proteinuria_VCGS_KidGen. Sources: Literature Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITSN1 were set to PMID: 29773874 Phenotypes for gene: ITSN1 were set to Early childhood SSNS