Respiratory ciliopathies including non-CF bronchiectasis
Gene: ITCHComment 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
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: LiteratureCreated: 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
Gene: itch has been classified as Red List (Low Evidence).
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
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