LAGE3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

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

• Proteinuric renal disease

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

• Severe microcephaly

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

• DDG2P

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

Disease associations (Open Targets)

• Galloway-Mowat syndrome 2, X-linked

  0.70

• neurodegenerative disease

  0.48

• Galloway-Mowat syndrome

  0.37

• lysosomal storage disease

  0.31

• hepatocellular carcinoma

  0.10

• breast cancer

  0.08

• neoplasm

  0.08

• autosomal recessive spondylocostal dysostosis

  0.07

• cancer

  0.06

• spondylolisthesis

  0.06

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

Protein function (UniProt)