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| Congenital Heart Defect v0.219 | AFF4 | Zornitza Stark Marked gene: AFF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | AFF4 | Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | AFF4 | Zornitza Stark Phenotypes for gene: AFF4 were changed from ventricular septal defect; patent ductus arteriosus; patent foramen ovale to CHOPS syndrome, MIM# 616368; ventricular septal defect; patent ductus arteriosus; patent foramen ovale | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.218 | AFF4 | Zornitza Stark Classified gene: AFF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.218 | AFF4 | Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.217 | AFF4 |
Chloe Stutterd gene: AFF4 was added gene: AFF4 was added to Congenital Heart Defect. Sources: Literature,Expert Review Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AFF4 were set to 25730767; 31058441 Phenotypes for gene: AFF4 were set to ventricular septal defect; patent ductus arteriosus; patent foramen ovale Review for gene: AFF4 was set to GREEN Added comment: At least 15 unrelated individuals reported. CdL-like, clinically recognisable phenotype, characterised by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. CHD include VSD, PDA, PFO. Sources: Literature, Expert Review |
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