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Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Spondylometaphyseal dysplasias gp of SD - >3 cases reported. no truncating/fs reported to date.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondylometaphyseal dysplasia, corner fracture type 184255

Publications

Mode of pathogenicity
Other - please provide details in the comments

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of pathogenicity: Only missense or inframe deletions reported to date.
Created: 17 Jul 2019, 11:15 a.m. | Last Modified: 17 Jul 2019, 11:15 a.m.
Panel Version: 1.176
Comment on list classification: More than 3 cases reported of plausible disease causing mutations found in the FN1 gene in patients with a relevant phenotype.
Created: 17 Jul 2019, 11:14 a.m. | Last Modified: 17 Jul 2019, 11:14 a.m.
Panel Version: 1.175
This gene is associated with Spondylometaphyseal dysplasia, corner fracture type (#184255) in OMIM.

PMID: 29100092 - Lee et al 2017 - 7 cases. Variants in FN1 found in patients from 7 families with Spondylometaphyseal dysplasias with corner fractures. 2 cases were familial, the rest were de novo mutations. In the two familial cases inheritance was autosomal dominant. All FN1 variants discovered in this study are absent from the ExAC Browser and affect highly conserved residues. 6 of the variants were missense, and one was an inframe deletion.

PMID: 30599297 - Costantini et al 2019 - 5 cases. Using WGS/WES or targeted Sanger sequencing they identified 5 heterozygous missense variants in FN1 in patients with spondylometaphyseal dysplasia with "corner fractures" (SMD-CF). In two families the variant was inherited from an affected parent. None of the patients had impaired renal function.
Created: 17 Jul 2019, 11:12 a.m. | Last Modified: 17 Jul 2019, 11:12 a.m.
Panel Version: 1.172
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FN1; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondylometaphyseal dysplasia, corner fracture type 184255
OMIM
135600
Clinvar variants
Variants in FN1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Jul 2019, Gel status: 3

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: FN1 was changed from to Other

17 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

17 Jul 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: FN1 were set to 29100092

17 Jul 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondylometaphyseal dysplasia, corner fracture type 184255 for gene: FN1 Publications for gene FN1 were changed from to 29100092

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: FN1 was added gene: FN1 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: FN1 was set to