PMPCA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal recessive spinocerebellar ataxia 2

  0.74

• Autosomal recessive cerebelloparenchymal disorder type 3

  0.72

• neurodegenerative disease

  0.50

• Failure to thrive

  0.42

• optic atrophy

  0.42

• Floppy infant

  0.42

• normal pressure hydrocephalus

  0.42

• Hypoventilation

  0.42

• hypertrophic cardiomyopathy

  0.42

• Severe global developmental delay

  0.42

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

Protein function (UniProt)

Diseases associated with PMPCA

Curated MONDO disease pages that list PMPCA among their top associated genes.

• optic atrophyRare