STAG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

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

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Holoprosencephaly

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Cytopenias and congenital anaemias

  Unknown

Disease associations (Open Targets)

• Mullegama-Klein-Martinez syndrome

  0.77

• alobar holoprosencephaly

  0.73

• neurodegenerative disease

  0.54

• urinary bladder cancer

  0.54

• Ewing sarcoma

  0.52

• hereditary disease

  0.48

• acute myeloid leukemia

  0.41

• myelodysplastic syndrome

  0.39

• urinary bladder carcinoma

  0.39

• glioblastoma

  0.38

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

Protein function (UniProt)