FBLN5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ehlers Danlos syndrome with a likely monogenic cause

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection (GMS)

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

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Disease associations (Open Targets)

• macular degeneration, age-related, 3

  0.77

• cutis laxa, autosomal recessive, type 1A

  0.76

• Charcot-Marie-Tooth disease, demyelinating, IIA 1H

  0.74

• cutis laxa, autosomal dominant 2

  0.60

• cutis laxa

  0.51

• autosomal dominant cutis laxa

  0.42

• hereditary sensorimotor neuropathy with hyperelastic skin

  0.40

• autosomal recessive cutis laxa type 1

  0.38

• neurodegenerative disease

  0.29

• drug allergy

  0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)