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| Ciliary Dyskinesia v1.39 | SCNN1G |
Jonathon Bradshaw changed review comment from: Context: The Epithelial sodium channel (ENaC) is a heterotrimer composed of 3 subunits coded by the SCNN1A, SCNN1B, SCNN1G, and SCNN1D genes. Bush, A and Floto, R. (2019): The classical single gene disorder is α-1 antitrypsin deficiency (MIM#613490), which also causes liver disease. ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative. However, bronchiectasis is likely to be a very complex disease, of heterogeneous etiology, and genetic studies are likely to approach the complexity of those of asthma, rather than the classic single gene disorders such as CF. Fajac, I. et al. (2008): Identified 3 idiopathic bronchiectasis affected individuals without CFTR variants. They found 2 variants - one of which is reported ten times as B/LB in ClinVar, and the other is reported nine times as B/LB in ClinVar. Guan, W. et al. (2018): NGS screening study. 192 bronchiectasis patients and 100 healthy subjects. 32 genes thought to be clinically relevant were screened. No SCNN1G variants were detected in healthy or affected groups. 6 affected individuals had variants in SCNN1A and SCNN1B.; to: Context: The Epithelial sodium channel (ENaC) is a heterotrimer composed of 3 subunits coded by the SCNN1A, SCNN1B, SCNN1G, and SCNN1D genes. Bush, A and Floto, R. (2019): The classical single gene disorder is α-1 antitrypsin deficiency (MIM#613490), which also causes liver disease. ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative. However, bronchiectasis is likely to be a very complex disease, of heterogeneous etiology, and genetic studies are likely to approach the complexity of those of asthma, rather than the classic single gene disorders such as CF. Fajac, I. et al. (2008): Identified 3 idiopathic bronchiectasis affected individuals without CFTR variants. They found 2 variants - one of which is reported ten times as B/LB in ClinVar, and the other is reported nine times as B/LB in ClinVar. Guan, W. et al. (2018): NGS screening study. 192 bronchiectasis patients and 100 healthy subjects. 32 genes thought to be clinically relevant were screened. No SCNN1G variants were detected in healthy or affected groups. 6 affected individuals had variants in SCNN1A and SCNN1B. |
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| Ciliary Dyskinesia v1.8 | SCNN1A | Zornitza Stark Phenotypes for gene: SCNN1A were changed from Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021); MONDO:0013087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.7 | SCNN1A | Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.6 | SCNN1A | Zornitza Stark Classified gene: SCNN1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.6 | SCNN1A | Zornitza Stark Gene: scnn1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.5 | SCNN1A | Zornitza Stark reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19462466; Phenotypes: Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021, MONDO:0013087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.70 | SCNN1A | Zornitza Stark Marked gene: SCNN1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.70 | SCNN1A | Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.70 | SCNN1A | Zornitza Stark Classified gene: SCNN1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.70 | SCNN1A | Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.68 | SCNN1A |
Crystle Lee gene: SCNN1A was added gene: SCNN1A was added to Ciliary Dyskinesia. Sources: Expert Review Mode of inheritance for gene: SCNN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCNN1A were set to 22207244; 19017867; 19462466 Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) Review for gene: SCNN1A was set to GREEN Added comment: Phenotypic overlap with PCD Encodes for the alpha subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244) Sources: Expert Review |
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