HNRNPA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Amyotrophic lateral sclerosis/motor neuron disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Arthrogryposis

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Disease associations (Open Targets)

• amyotrophic lateral sclerosis

  0.64

• inclusion body myopathy with Paget disease of bone and frontotemporal dementia

  0.51

• chronic progressive multiple sclerosis

  0.51

• Finnish upper limb-onset distal myopathy

  0.50

• amyotrophic lateral sclerosis type 20

  0.44

• inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

  0.43

• severe acute respiratory syndrome

  0.37

• dengue disease

  0.37

• relapsing-remitting multiple sclerosis

  0.34

• distal myopathy

  0.33

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

Protein function (UniProt)