FN1

Green FN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Spondylometaphyseal dysplasia, corner fracture type 184255

Amber FN1 in Fetal anomalies

Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• Spondylometaphyseal Dysplasia with Corner Fractures

Amber FN1 in DDG2P

Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Amber

Phenotypes

• Spondylometaphyseal Dysplasia with Corner Fractures 184255

Green FN1 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.77
Latest signed off version: v2.32 (16 Oct 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list

Phenotypes

• Glomerulopathy with fibronectin deposits 2, OMIM:601894

Green FN1 in Severe Paediatric Disorders

Version 1.127

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