PAX3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial rhabdomyosarcoma

  Other - please specifiy in evaluation comments

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Disease associations (Open Targets)

• Waardenburg syndrome type 1

  0.85

• Waardenburg syndrome type 3

  0.76

• craniofacial-deafness-hand syndrome

  0.74

• Waardenburg syndrome

  0.72

• alveolar rhabdomyosarcoma

  0.62

• Rare genetic deafness

  0.49

• hair color

  0.47

• hereditary disease

  0.47

• neurodegenerative disease

  0.46

• androgenetic alopecia

  0.46

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

Protein function (UniProt)

Diseases associated with PAX3

Curated MONDO disease pages that list PAX3 among their top associated genes.

• carcinoma of liver and intrahepatic biliary tractRare