PanelApp (test)
  1. Genes and Genomic Entities
  2. NADSYN1:Ensemblv90

NADSYN1:Ensemblv90

NAD synthetase 1
OMIM: 608285, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

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


Level 2: Renal and urinary tract disorders
Version 0.160

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 review 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 0.511

    		1 review 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 1.3802

    		1 review 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 Fetal anomalies


    Version 1.482

    		1 review 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

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


    Level 2: Renal and urinary tract disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    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 1.0

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