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  3. ITCH
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: ITCH

Red List (low evidence)
ITCH (itchy E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000078747
EnsemblGeneIds (GRCh37): ENSG00000078747
OMIM: 606409, Gene2Phenotype
ITCH is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence this gene has been given a Red rating.
Created: 2 Dec 2020, 11:28 a.m. | Last Modified: 2 Dec 2020, 11:28 a.m.
Panel Version: 1.20
Created: 2 Dec 2020, 11:28 a.m.
Last Modified: 2 Dec 2020, 11:28 a.m.
Panel version: 1.20

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual with biallelic start-loss variant and primary ciliary dyskinesia reported in PMID 32367404.

Note that in the original Amish families, chronic lung disease was present in 9 of the 10 children, often clinically characterised as asthma and consisting of a cellular, nonspecific interstitial pneumonitis; respiratory failure was the cause of death in all 3 children who were deceased, at 6 months, 1.2 years, and 3 years of age, respectively. Unclear if ciliary dyskinesia may have been part of the phenotype.
Sources: Literature
Created: 5 Oct 2020, 9:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune disease, multisystem, with facial dysmorphism 613385; primary ciliary dyskinesia

Publications

Created: 5 Oct 2020, 9:47 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism OMIM:613385
  • syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
  • primary ciliary dyskinesia
OMIM
606409
Clinvar variants
Variants in ITCH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: itch has been classified as Red List (Low Evidence).

2 Dec 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism 613385; primary ciliary dyskinesia to Autoimmune disease, multisystem, with facial dysmorphism OMIM:613385; syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; primary ciliary dyskinesia

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ITCH was added gene: ITCH was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITCH were set to 20170897; 32367404 Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism 613385; primary ciliary dyskinesia Review for gene: ITCH was set to RED