CLPB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• 3-methylglutaconic aciduria, type VIIB

  0.84

• neutropenia, severe congenital, 9, autosomal dominant

  0.79

• 3-methylglutaconic aciduria, type VIIA

  0.69

• 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

  0.68

• hereditary disease

  0.49

• neutropenia

  0.42

• Decreased total neutrophil count

  0.42

• Premature ovarian insufficiency

  0.42

• autosomal dominant severe congenital neutropenia

  0.37

• 3-methylglutaconic aciduria

  0.34

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

Protein function (UniProt)