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| Congenital Heart Defect v0.246 | HAAO | Zornitza Stark Marked gene: HAAO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.246 | HAAO | Zornitza Stark Gene: haao has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.246 | HAAO | Zornitza Stark Phenotypes for gene: HAAO were changed from Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660; Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.245 | HAAO | Zornitza Stark Classified gene: HAAO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.245 | HAAO | Zornitza Stark Gene: haao has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.239 | KYNU |
Chloe Stutterd gene: KYNU was added gene: KYNU was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 28792876; 33942433 Phenotypes for gene: KYNU were set to MIM# 617661 Vertebral, cardiac, renal, and limb defects syndrome 2 Review for gene: KYNU was set to GREEN gene: KYNU was marked as current diagnostic Added comment: Biallelic, inactivating variants in three genes encoding enzymes of the NAD biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder (PMID: 33942433) Sources: Literature, Expert list |
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| Congenital Heart Defect v0.239 | HAAO | Chloe Stutterd edited their review of gene: HAAO: Added comment: CHD reported: Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation; Changed phenotypes: MIM#617660 Vertebral, cardiac, renal, and limb defects syndrome 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.239 | HAAO |
Chloe Stutterd gene: HAAO was added gene: HAAO was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 28792876; 33942433 Phenotypes for gene: HAAO were set to Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation Review for gene: HAAO was set to GREEN gene: HAAO was marked as current diagnostic Added comment: MIM#617660 phenotype is called 'Vertebral, cardiac, renal, and limb defects syndrome type 1' and is a form of Congenital NAD Deficiency Disorder. Biallelic, inactivating variants in three genes encoding enzymes of the NAD biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder (PMID: 33942433). Sources: Literature, Expert list |
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