AIMP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hypomyelinating leukodystrophy 3

  0.78

• Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

  0.72

• Pelizaeus-Merzbacher-like disease

  0.66

• Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism

  0.66

• leukodystrophy

  0.37

• autosomal recessive non-syndromic intellectual disability

  0.37

• Hypotonia

  0.34

• asthma

  0.23

• hereditary disease

  0.19

• seasonal allergic rhinitis

  0.11

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

Protein function (UniProt)