TSPYL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Differences in sex development

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• Sudden death in young people

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• sudden infant death-dysgenesis of the testes syndrome

  0.71

• Sudden infant death - dysgenesis of the testes

  0.68

• neurodegenerative disease

  0.47

• hereditary disease

  0.19

• edema

  0.12

• brain compression

  0.12

• systemic lupus erythematosus

  0.10

• major depressive disorder

  0.08

• depressive disorder

  0.06

• prostate carcinoma

  0.03

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