CLCN7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Osteopetrosis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Albinism or congenital nystagmus

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Lysosomal storage disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Autosomal recessive malignant osteopetrosis

  0.80

• Albers-Schönberg osteopetrosis

  0.78

• autosomal recessive osteopetrosis 4

  0.76

• autosomal dominant osteopetrosis 2

  0.72

• hypopigmentation, organomegaly, and delayed myelination and development

  0.65

• bone disorder

  0.45

• hereditary disease

  0.45

• osteopetrosis

  0.43

• Intermediate osteopetrosis

  0.39

• Abnormality of the skeletal system

  0.27

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

Protein function (UniProt)