DYNC1H1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

  0.82

• intellectual disability, autosomal dominant 13

  0.81

• Charcot-Marie-Tooth disease axonal type 2O

  0.78

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

  0.72

• autosomal dominant non-syndromic intellectual disability

  0.63

• hereditary disease

  0.54

• Intellectual disability

  0.52

• autosomal dominant childhood-onset proximal spinal muscular atrophy

  0.50

• neurodegenerative disease

  0.50

• viral infectious disease

  0.46

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

Protein function (UniProt)