FN1

Green FN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Spondylometaphyseal dysplasia, corner fracture type 184255

Green FN1 in Unexplained young onset end-stage renal disease

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert list

Phenotypes

• Glomerulopathy with fibronectin deposits 2, OMIM:601894

Amber FN1 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• Spondylometaphyseal Dysplasia with Corner Fractures

Green FN1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

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 4.12
Latest signed off version: v4.0 (22 Mar 2023)

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 1.184

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