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Severe Paediatric Disorders

Gene: FN1

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FN1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Glomerulopathy with fibronectin deposits 2, 601894 (3) | Plasma fibronectin deficiency, 614101 (1) | Spondylometaphyseal dysplasia, corner fracture type, 184255 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Plasma fibronectin deficiency, 614101
  • Glomerulopathy with fibronectin deposits 2, 601894
  • Spondylometaphyseal dysplasia, corner fracture type, 184255
OMIM
135600
Clinvar variants
Variants in FN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene FN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FN1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Plasma fibronectin deficiency, 614101; Spondylometaphyseal dysplasia, corner fracture type, 184255; Glomerulopathy with fibronectin deposits 2, 601894 for gene: FN1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FN1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FN1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FN1 was added gene: FN1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FN1 was set to