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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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