TSPAN7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• intellectual disability, X-linked 58

  0.69

• X-linked non-syndromic intellectual disability

  0.60

• non-syndromic X-linked intellectual disability

  0.42

• severe acute respiratory syndrome

  0.29

• COVID-19

  0.29

• Intellectual disability

  0.14

• neoplasm

  0.10

• cancer

  0.08

• non-small cell lung carcinoma

  0.08

• colorectal carcinoma

  0.08

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

Protein function (UniProt)