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Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.46 ITSN1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.43 ITSN1 Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1.
Intellectual disability v7.41 ITSN1 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ITSN1.
Tag Q2_24_NHS_review was removed from gene: ITSN1.
Intellectual disability v7.41 ITSN1 Achchuthan Shanmugasundram commented on gene: ITSN1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Intellectual disability v7.40 ITSN1 Achchuthan Shanmugasundram Source NHS GMS was added to ITSN1.
Source Expert Review Green was added to ITSN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from autism spectrum disorders; intellectual disability; epilepsy. to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.19 ITSN1 Achchuthan Shanmugasundram Publications for gene: ITSN1 were set to Bruel et al., 2021 (PMID: 34707297):
Intellectual disability v6.18 ITSN1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: ITSN1.
Tag Q2_24_NHS_review tag was added to gene: ITSN1.
Intellectual disability v6.18 ITSN1 Achchuthan Shanmugasundram reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34707297; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.16 ITSN1 John Taylor gene: ITSN1 was added
gene: ITSN1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ITSN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITSN1 were set to Bruel et al., 2021 (PMID: 34707297):
Phenotypes for gene: ITSN1 were set to autism spectrum disorders; intellectual disability; epilepsy.
Penetrance for gene: ITSN1 were set to unknown
Review for gene: ITSN1 was set to GREEN
gene: ITSN1 was marked as current diagnostic
Added comment: Bruel et al 2021 (PMID: 34707297):
Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the development of such disorders.

A worldwide collaboration identified ten novel patients from eight families with heterozygous truncating or missense variants in ITSN1 gene. All patients underwent detailed phenotypic and genetic assessment and data was collected and shared by healthcare givers.

In addition, four previously published patients from large meta-analysis studies were included.
In total, 7/14 patients presented a de novo variant in ITSN1. Frameshift, nonsense and splice site variants would be consistent with haploinsufficiency. gnomADv4.1 indicates the ITSN1 gene is intolerant to LoF variants and Decipher indicates a high haploinsufficiency index score.

All patients showed neurodevelopmental disorders from autism spectrum disorders (90%), intellectual disability (86%), and epilepsy (30%). Minor and inconstant dysmorphic features were observed. Gastro-intestinal problems including constipation, diarrhoea, and gastroesophageal reflux was reported in some patients. Intellectual disability (IQ test) was reported to range from mild to moderate. In two families, the ITSN1 variant was inherited from a paucisymptomatic father, who were reported to present with ADHD, or learning difficulties and autistic features. Patients 8,9, and 10 (Bruel et al., 2021) inherited the familial nonsense variant from their father (learning difficulties and autistic features) and one unaffected sibling was not found to have the variant.
Sources: Literature