ITGA8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  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

• Monogenic hearing loss

Disease associations (Open Targets)

• renal hypodysplasia/aplasia 1

  0.78

• renal agenesis

  0.65

• neurodegenerative disease

  0.50

• bilateral renal agenesis

  0.38

• congenital anomaly of kidney and urinary tract

  0.37

• lobe attachment

  0.31

• alcohol drinking

  0.31

• Parkinson disease

  0.28

• hypertensive disorder

  0.28

• glomerulonephritis

  0.26

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

Protein function (UniProt)