PRSS56

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Isolated anophthalmia - microphthalmia

  0.80

• microphthalmia

  0.62

• myopia

  0.52

• nanophthalmia

  0.51

• refractive error

  0.48

• Hypermetropia

  0.45

• Abnormality of refraction

  0.34

• primary angle-closure glaucoma

  0.33

• Progressive visual loss

  0.33

• neurodegenerative disease

  0.27

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

Protein function (UniProt)

Diseases associated with PRSS56

Curated MONDO disease pages that list PRSS56 among their top associated genes.

• myopiaRare