KYNU

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

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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

  BIALLELIC, autosomal or pseudoautosomal

• VACTERL-like phenotypes

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• vertebral, cardiac, renal, and limb defects syndrome 2

  0.75

• congenital vertebral-cardiac-renal anomalies syndrome

  0.61

• encephalopathy due to hydroxykynureninuria

  0.58

• Catel-Manzke syndrome

  0.49

• cataract

  0.42

• neurodegenerative disease

  0.37

• pulmonary vascular congestion

  0.33

• macular degeneration

  0.30

• respiratory system disorder

  0.27

• malunion fracture

  0.26

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

Protein function (UniProt)