SALL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Deafness and congenital structural abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Non-syndromic familial congenital anorectal malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Radial dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Townes-Brocks syndrome

  0.82

• dentures

  0.48

• hereditary disease

  0.47

• insomnia

  0.46

• neurodegenerative disease

  0.45

• nontoxic goiter

  0.44

• mathematical ability

  0.42

• multinodular goiter

  0.37

• polydactyly

  0.37

• nodular goiter

  0.35

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

Protein function (UniProt)