DNAJC5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset dementia (encompassing fronto-temporal dementia and prion disease)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Lysosomal storage disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Neuronal ceroid lipofuscinosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• CLN4B disease

  0.80

• ceroid lipofuscinosis, neuronal, 4 (Kufs type)

  0.79

• neuronal ceroid lipofuscinosis

  0.42

• hypertensive disorder

  0.23

• adult neuronal ceroid lipofuscinosis

  0.21

• CLN4A disease

  0.19

• hereditary disease

  0.19

• Sjogren syndrome

  0.13

• infection

  0.10

• malaria

  0.10

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

Protein function (UniProt)