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| 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 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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| Congenital Heart Defect v0.148 | NADSYN1 | Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.147 | NADSYN1 | Zornitza Stark Marked gene: NADSYN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.147 | NADSYN1 | Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.147 | NADSYN1 | Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.147 | NADSYN1 | Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.146 | NADSYN1 |
Zornitza Stark gene: NADSYN1 was added gene: NADSYN1 was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644 Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral Review for gene: NADSYN1 was set to GREEN Added comment: Five individuals from four unrelated families. Sources: Expert Review |
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