DHTKD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Hereditary neuropathy

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Disease associations (Open Targets)

• 2-aminoadipic 2-oxoadipic aciduria

  0.83

• Charcot-Marie-Tooth disease axonal type 2Q

  0.67

• Autosomal dominant Charcot-Marie-Tooth disease type 2Q

  0.50

• hereditary disease

  0.50

• neurodegenerative disease

  0.37

• Tip-toe gait

  0.34

• type 2 diabetes mellitus

  0.33

• chondrocalcinosis

  0.25

• alcohol drinking

  0.18

• Charcot-Marie-Tooth disease type 2A2

  0.17

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

Protein function (UniProt)