NFIA

nuclear factor I A
OMIM: 600727, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

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


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Brain malformations with or without urinary tract defects - MIM#613735

    Green NFIA in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Craniosynostosis MONDO:0015469, NFIA-related

    Green NFIA in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain malformations with or without urinary tract defects - MIM#613735

    Green NFIA in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain malformations with or without urinary tract defects - MIM#613735

    Green NFIA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Brain malformations with or without urinary tract defects - MIM#613735

    Green NFIA in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Brain malformations with or without urinary tract defects - MIM#613735