NFXL1

nuclear transcription factor, X-box binding like 1
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NFXL1 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 Amber
    • Literature
    Phenotypes
    • Syndromic disease (MONDO:0002254), NFXL1-related

    Amber NFXL1 in Mendeliome


    Version 1.3741

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Syndromic disease (MONDO:0002254), NFXL1-related

    Amber NFXL1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.486

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Syndromic disease (MONDO:0002254), NFXL1-related