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Proteinuria

Gene: FN1

Green List (high evidence)
FN1 (fibronectin 1)
EnsemblGeneIds (GRCh38): ENSG00000115414
EnsemblGeneIds (GRCh37): ENSG00000115414
OMIM: 135600, Gene2Phenotype
FN1 is in 5 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants causing Spondylometaphyseal dysplasia tend to be within the N -terminus (domains I-1 to I-5) and affects the cysteine residues involved in disulphide bonds.
Created: 22 Mar 2021, 6:28 a.m. | Last Modified: 22 Mar 2021, 6:28 a.m.
Panel Version: 0.6850

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Glomerulopathy with fibronectin deposits 2 (MIM#601894); Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)

Publications

Created: 22 Mar 2021, 6:28 a.m.
Last Modified: 22 Mar 2021, 6:28 a.m.
Panel version: Imported from Mendeliome panel version 0.6850

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported; mostly a nephrotic picture with some haematuria.
Sources: Expert list
Created: 3 Jan 2020, 5:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomerulopathy with fibronectin deposits 2, MIM# 601894

Publications

Created: 3 Jan 2020, 5:08 a.m.

Panel version: 0.63

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glomerulopathy with fibronectin deposits 2, MIM# 601894
OMIM
135600
Clinvar variants
Variants in FN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fn1 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fn1 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fn1 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FN1 was added gene: FN1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FN1 were set to 18268355 Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM# 601894 Review for gene: FN1 was set to GREEN