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  3. ITCH
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Ciliary Dyskinesia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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.
Created: 5 Oct 2020, 4:57 a.m. | Last Modified: 5 Oct 2020, 4:57 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 Oct 2020, 4:57 a.m.
Last Modified: 5 Oct 2020, 4:57 a.m.
Panel version: 0.130

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

https://link.springer.com/article/10.1007/s00439-020-02170-2

Single patient with biallelic start-loss variant and primary ciliary dyskinesia
Sources: Literature
Created: 5 Oct 2020, 4:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Oct 2020, 4:43 a.m.

Panel version: 0.125

Details

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

History Filter Activity

5 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITCH were set to 20170897

5 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITCH were set to

5 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ITCH was added gene: ITCH was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal 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