FN1:Ensemblv90

fibronectin 1
OMIM: 135600, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red FN1 in Haematuria_Alport


Level 2: Renal and urinary tract disorders
Version 1.2

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • 1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green FN1 in Mendeliome


    Version 1.3802

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glomerulopathy with fibronectin deposits 2 (MIM#601894)
    • Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)

    Green FN1 in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.231

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glomerulopathy with fibronectin deposits 2, MIM# 601894

    Green FN1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.365

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spondylometaphyseal dysplasia, corner fracture type 184255

    Amber FN1 in Fetal anomalies


    Version 1.482

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)

    Red FN1 in Haematuria_Alport


    Level 2: Renal and urinary tract disorders
    Version 2.0

    1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red

    Green FN1 in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 1.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Glomerulopathy with fibronectin deposits 2, MIM# 601894

    Green FN1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spondylometaphyseal dysplasia, corner fracture type 184255