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| Respiratory ciliopathies including non-CF bronchiectasis v1.20 | ITCH | Ivone Leong Classified gene: ITCH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.20 | ITCH | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.20 | ITCH | Ivone Leong Gene: itch has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.19 | ITCH | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | ITCH |
Zornitza Stark 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 Added comment: 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 |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.143 | GAS2L2 |
Louise Daugherty gene: GAS2L2 was added gene: GAS2L2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review watchlist tags were added to gene: GAS2L2. Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to 30665704 Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia Review for gene: GAS2L2 was set to AMBER Added comment: Review added to Primary ciliary disorders panel, gene recommend by Hannah Mitchison. PMID: 30665704 reports two unrelated individuals with clinical features of primary ciliary dyskinesia, one of whom had a homozygous frameshift variant in GAS2L2; the other was a compound heterozygote for the same variant and an intragenic deletion in GAS2L2. Cultured cells from one of the patients showed evidence of ciliary dysfunction and there was functional evidence of ciliary dysfunction in Xenopus and mouse knockouts. Sources: Expert Review Anna de Burca (Genomics England Curator), 24 Jan 2019 Sources: Expert Review |
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