NFIA

nuclear factor I A
OMIM: 600727, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NFIA in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 1 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 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


    Level 2: Renal and urinary tract disorders
    Version 0.159

    Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • 2 reviews 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 1.72

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

    Green NFIA in Mendeliome


    Version 1.3512

    1 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 0.565

    1 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 1.410

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

    Green NFIA in Fetal anomalies


    Version 1.465

    1 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