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Intellectual disability syndromic and non-syndromic

Gene: ITSN1

Green List (high evidence)

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

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

-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
Sources: Literature
Created: 1 Feb 2022, 11:48 p.m. | Last Modified: 1 Feb 2022, 11:49 p.m.
Panel Version: 0.4484

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder MONDO:0700092 ITSN1-related
OMIM
602442
Clinvar variants
Variants in ITSN1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, 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).

2 Feb 2022, 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).

1 Feb 2022, Gel status: 0

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

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: ITSN1 was added gene: ITSN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ITSN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITSN1 were set to PMID: 34707297 Phenotypes for gene: ITSN1 were set to neurodevelopmental disorder MONDO:0700092 ITSN1-related Penetrance for gene: ITSN1 were set to unknown gene: ITSN1 was marked as current diagnostic