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STRs in panel
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COVID-19 research

Gene: ITCH

Green List (high evidence)

ITCH (itchy E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000078747
EnsemblGeneIds (GRCh37): ENSG00000078747
OMIM: 606409, Gene2Phenotype
ITCH is in 6 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
personal correspondence revealed a second, as yet unpublished, case.
Created: 2 Jul 2018, 1:53 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ITCH .PanelApp HGNC gene symbol check: ITCH . IUIS Disease: ITCH deficiency . IUIS Inheritance: AR .T cells: Nl number, poor proliferation to antigen, .B cells: Not assessed , .IUIS Other affected cells: N/A. IUIS Associated features: Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features . IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without Lymphoproliferation
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external expert review and further publications to support gene-disease association
Created: 27 Jun 2018, 9:50 a.m.
added founder-effect tag. Only one pathogenic variant reported in the Amish community. In view of expert review Green and functional info this gene was made Green.
Created: 27 Jun 2018, 9:48 a.m.
Loss of ITCH function has also been associated with a gastrointestinal inflammatory phenotype in both mice and humans Kathania et al. 2016 (PMID:27322655), Lohr et al., 2010 (PMID:2017089), Ramon et al., 2011 (PMID:20962770), Tao et al., 2009 (PMID:19592251)
Created: 27 Jun 2018, 9:37 a.m.
Comment on phenotypes: added phenotype from orphanet
Created: 27 Jun 2018, 9:06 a.m.
Comment on publications: added publication to support phenotype. Lohr et al. (2010) described 10 Old Order Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with facial dysmorphism sequenced the candidate gene ITCH and identified homozygosity for a 1-bp insertion (394insA) in exon 6, resulting in a frameshift predicted to truncate ITCH at residue 139. Variant: NM_031483.6(ITCH): c.394dupA (p.Ile132Asnfs).
Created: 27 Jun 2018, 9:06 a.m.
Comment on phenotypes: added phenotype from orphanet
Created: 27 Jun 2018, 9:06 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ITCH, PanelApp HGNC gene symbol check: ITCH, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) / Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ITCH, GRID_Gene_Symbol: ITCH, GRID_Transcript_ENS_Community submitted: ENST00000374864, GRID_Transcript_RefSeq: NM_031483.4, GRID_Transcript_ENS_used_on_Production: ENST00000374864
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features
  • Diseases of Immune Dysregulation
  • Autoimmune disease, multisystem, with facial dysmorphism, 613385
  • Syndromic multisystem autoimmune disease due to Itch deficiency
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
OMIM
606409
Clinvar variants
Variants in ITCH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ITCH was added gene: ITCH was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITCH were set to 26854353; 27322655; 20962770; 19592251; 20170897 Phenotypes for gene: ITCH were set to Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features; Diseases of Immune Dysregulation; Autoimmune disease, multisystem, with facial dysmorphism, 613385; Syndromic multisystem autoimmune disease due to Itch deficiency; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)