LRIG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Ochoa syndrome

  0.71

• urofacial syndrome 2

  0.68

• congenital anomaly of kidney and urinary tract

  0.37

• Global developmental delay

  0.34

• neurodegenerative disease

  0.31

• hypothyroidism

  0.30

• alcohol drinking

  0.29

• urolithiasis

  0.29

• neoplasm

  0.10

• glioblastoma

  0.10

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