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Ciliary Dyskinesia v0.131 | ITCH | Zornitza Stark Publications for gene: ITCH were set to 20170897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.130 | ITCH | Zornitza Stark edited their review of gene: ITCH: Changed publications: 20170897, 32367404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.127 | ITCH | Zornitza Stark Marked gene: ITCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.127 | ITCH | Zornitza Stark Gene: itch has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.127 | ITCH | Zornitza Stark Publications for gene: ITCH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.126 | ITCH | Zornitza Stark Classified gene: ITCH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.126 | ITCH | Zornitza Stark Gene: itch has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.125 | ITCH | Zornitza Stark reviewed gene: ITCH: Rating: RED; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism 613385, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v0.125 | ITCH |
Elena Savva 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 Added comment: https://link.springer.com/article/10.1007/s00439-020-02170-2 Single patient with biallelic start-loss variant and primary ciliary dyskinesia Sources: Literature |