TRAP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained young onset end-stage renal disease - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• VACTERL-like phenotypes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• congenital anomaly of kidney and urinary tract

  0.64

• VACTERL/vater association

  0.49

• atrial fibrillation

  0.45

• neurodegenerative disease

  0.37

• smoking initiation

  0.34

• congenital anomalies of kidney and urinary tract 1

  0.33

• gout

  0.33

• Blindness

  0.31

• mixed connective tissue disease

  0.30

• alcohol drinking

  0.18

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

Protein function (UniProt)