Genomics England
GMS Panels
Panels
Genes and Entities

FN1

fibronectin 1
OMIM: 135600
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spondylometaphyseal Dysplasia with Corner Fractures 184255
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.22
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glomerulopathy with fibronectin deposits 2, OMIM:601894
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spondylometaphyseal dysplasia, corner fracture type 184255