| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Respiratory ciliopathies including non-CF bronchiectasis v0.34 | DNAH11 |
Louise Daugherty Mode of inheritance for gene DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAH11 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.34 | DNAH1 |
Louise Daugherty Mode of inheritance for gene DNAH1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Too new - not yet linked to the PCD mutations publication for gene: DNAH1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | DNAH11 |
Louise Daugherty Source Expert Review Green was added to DNAH11. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | DNAH1 |
Louise Daugherty Source Expert Review Amber was added to DNAH1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | DNAH11 | Louise Daugherty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | DNAH1 | Louise Daugherty reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | DNAH11 |
Louise Daugherty gene: DNAH11 was added gene: DNAH11 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH11 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | DNAH1 |
Louise Daugherty gene: DNAH1 was added gene: DNAH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||