NADSYN1

NAD synthetase 1
OMIM: 608285, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NADSYN1 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.13

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
    • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845

    Green NADSYN1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.35

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
    • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845

    Green NADSYN1 in Mendeliome


    Version 2.588

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
    • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845

    Green NADSYN1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
    • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845

    Green NADSYN1 in Fetal anomalies


    Version 2.81

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
    • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845