DSTYK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Unexplained kidney failure in young people

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• congenital anomalies of kidney and urinary tract 1

  0.76

• Genetic renal or urinary tract malformation

  0.71

• hereditary spastic paraplegia 23

  0.62

• neurodegenerative disease

  0.50

• Autosomal recessive spastic paraplegia type 23

  0.49

• hair color

  0.48

• Parkinson disease

  0.47

• Alzheimer disease

  0.46

• lysosomal storage disease

  0.46

• multiple sclerosis

  0.46

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

Protein function (UniProt)