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| Congenital Heart Defect v0.226 | DNAH5 | Zornitza Stark Marked gene: DNAH5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.226 | DNAH5 | Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.226 | DNAH5 | Zornitza Stark Phenotypes for gene: DNAH5 were changed from Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.225 | DNAH5 | Zornitza Stark Classified gene: DNAH5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.225 | DNAH5 | Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.224 | DNAH5 | Zornitza Stark reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | DNAH5 |
Chloe Stutterd gene: DNAH5 was added gene: DNAH5 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH5 were set to 31638833 Phenotypes for gene: DNAH5 were set to Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries Penetrance for gene: DNAH5 were set to unknown Review for gene: DNAH5 was set to AMBER gene: DNAH5 was marked as current diagnostic Added comment: Gene included in Victor Chang CHD gene list but all references to CHD are in association with heterotaxy. PMID 31638833: 8/132 (6.1%) patients with DNAH5-associated primary ciliary dyskinesia presented with CHD (septal defects with or without valve and vessel defects) and all had heterotaxy (three with situs solitus and five had situs inversus). Sources: Expert list, Literature |
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