CHD7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Choanal atresia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Deafness and congenital structural abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Differences in sex development

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• CHARGE syndrome

  0.87

• hypogonadotropic hypogonadism 5 with or without anosmia

  0.81

• CHD7-related CHARGE syndrome

  0.73

• hypogonadotropic hypogonadism

  0.67

• Kallmann syndrome

  0.66

• adolescent idiopathic scoliosis

  0.56

• hereditary disease

  0.56

• neurodegenerative disease

  0.53

• Immunodeficiency

  0.46

• immune system disorder

  0.46

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

Protein function (UniProt)

Diseases associated with CHD7

Curated MONDO disease pages that list CHD7 among their top associated genes.

• hereditary diseaseRare
• adolescent idiopathic scoliosisRare