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| Congenital Heart Defect v0.222 | CFC1 | Zornitza Stark Marked gene: CFC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.222 | CFC1 | Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.222 | CFC1 | Zornitza Stark Phenotypes for gene: CFC1 were changed from Atrioventricular septal defect; Interrupted aortic arch; Tetralogy of fallot; Transposition of the great arteries; Truncus arteriosus; Double outlet right ventricle; Heterotaxy to Heterotaxy, visceral, 2, MIM# 605376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.221 | CFC1 | Zornitza Stark Publications for gene: CFC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.220 | CFC1 | Zornitza Stark Classified gene: CFC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.220 | CFC1 | Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | CFC1 | Zornitza Stark reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, MIM# 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | CFC1 |
Chloe Stutterd gene: CFC1 was added gene: CFC1 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFC1 were set to Atrioventricular septal defect; Interrupted aortic arch; Tetralogy of fallot; Transposition of the great arteries; Truncus arteriosus; Double outlet right ventricle; Heterotaxy Penetrance for gene: CFC1 were set to unknown Review for gene: CFC1 was set to RED Added comment: Strong evidence for causality of heterotaxy syndromes with congenital cardiac malformations (11062482), however investigation of CFC1 as a cause of isolated CHD identified only the polymorphism R78W or the A145T variant which was also present in controls (11799476; 17072672). Sources: Expert list, Literature |
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