1. Genes and Genomic Entities
  2. NADSYN1

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 1.177

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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