FN1

fibronectin 1
OMIM: 135600, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red FN1 in Haematuria_Alport


Level 2: Renal and urinary tract disorders
Version 2.0

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

Green FN1 in Mendeliome


Version 2.0

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 1.0

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 1.0

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 2.0

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