LTBP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Corneal dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• congenital glaucoma

  0.74

• microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

  0.72

• glaucoma secondary to spherophakia/ectopia lentis and megalocornea

  0.66

• Weill-Marchesani syndrome 3

  0.64

• Microspherophakia

  0.60

• open-angle glaucoma

  0.57

• Weill-Marchesani syndrome

  0.51

• glaucoma

  0.49

• primary congenital glaucoma

  0.47

• Juvenile glaucoma

  0.45

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

Protein function (UniProt)

Diseases associated with LTBP2

Curated MONDO disease pages that list LTBP2 among their top associated genes.

• open-angle glaucomaRare
• glaucomaRare