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Mendeliome

Gene: ITSN1

Green List (high evidence)

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

2 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

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nephrotic syndrome
  • Neurodevelopmental disorder MONDO:0700092, ITSN1-related
Transcripts
  • Steroid-resistant nephrotic syndrome
OMIM
602442
Clinvar variants
Variants in ITSN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITSN1 were changed from Nephrotic syndrome to Nephrotic syndrome; Neurodevelopmental disorder MONDO:0700092, ITSN1-related

2 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITSN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITSN1 were changed from 29773874 to Nephrotic syndrome

17 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITSN1 were set to

9 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITSN1 was added gene: ITSN1 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITSN1 were set to 29773874 Review for gene: ITSN1 was set to GREEN