CDK16

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary spastic paraplegia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Adult onset hereditary spastic paraplegia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Adult onset neurodegenerative disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Childhood onset hereditary spastic paraplegia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• Intellectual disability

  0.37

• Reduced sperm motility

  0.30

• Abnormal sperm morphology

  0.30

• oligospermia

  0.30

• X-linked intellectual disability-spastic quadriparesis syndrome

  0.18

• cancer

  0.11

• neoplasm

  0.10

• small cell lung carcinoma

  0.10

• lung cancer

  0.09

• lung carcinoma

  0.09

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

Protein function (UniProt)