ELP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Embryonal tumour of possible germline origin

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial dysautonomia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Pain syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Familial Hirschsprung Disease

  Unknown

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Disease associations (Open Targets)

• Familial dysautonomia

  0.80

• Riley-Day syndrome

  0.73

• medulloblastoma

  0.72

• primary dysautonomia

  0.41

• Abnormality of the skeletal system

  0.40

• hereditary sensory and autonomic neuropathy

  0.37

• mathematical ability

  0.35

• open-angle glaucoma

  0.29

• smoking initiation

  0.22

• aortic disorder

  0.19

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

Protein function (UniProt)