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| Ciliopathies v0.115 | SCNN1G | Zornitza Stark Marked gene: SCNN1G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.115 | SCNN1G | Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.115 | SCNN1G | Zornitza Stark edited their review of gene: SCNN1G: Changed phenotypes: Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.115 | SCNN1G | Zornitza Stark reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.115 | SCNN1G | Zornitza Stark Classified gene: SCNN1G as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.115 | SCNN1G | Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.114 | SCNN1G | Zornitza Stark Classified gene: SCNN1G as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.114 | SCNN1G | Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.103 | SCNN1G |
Crystle Lee gene: SCNN1G was added gene: SCNN1G was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 22207244; 31655555; 30801930; 28484659 Phenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071); Liddle syndrome 2 (MIM#618114); Pseudohypoaldosteronism, type I (MIM#264350) Review for gene: SCNN1G was set to AMBER Added comment: Encodes for the gamma subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244). Respiratory problems is a feature of pseudohypoaldosteronism Type I. Minimal reports to date. Kozina 2019; PMID: 31655555: Reported one family and reviewed 6 other families with het truncating variants in SCNN1G causing Liddle syndrome. Unsure if features resemble ciliopathies Bush 2019; PMID: 30801930; ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative Nur 2017; PMID: 28484659; Review of PHA1. 2 patients reported with biallelic LoF type variants in SCNN1G. Sources: Expert Review |
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