NADSYN1

NAD synthetase 1
OMIM: 608285, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green NADSYN1 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3 618845
Green NADSYN1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
  • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
Green NADSYN1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NADSYN1-related Congenital NAD Deficiency Disorder
    Green NADSYN1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.37
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 3 618845