PRSS12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual disability, autosomal recessive 1

  0.62

• atrial fibrillation

  0.47

• autosomal recessive non-syndromic intellectual disability

  0.46

• atrial flutter

  0.38

• esophageal disorder

  0.35

• neurodegenerative disease

  0.33

• Anxiety

  0.31

• chronic obstructive pulmonary disease

  0.31

• cardiac arrhythmia

  0.31

• pathological myopia

  0.30

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

Protein function (UniProt)