EIF2S3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

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

• DDG2P

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

• Early onset or syndromic epilepsy

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

• Fetal anomalies

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

• Intellectual disability

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

• Neonatal diabetes

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

• Severe microcephaly

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

• Pituitary hormone deficiency

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

Disease associations (Open Targets)

• MEHMO syndrome

  0.80

• X-linked syndromic intellectual disability

  0.46

• diabetes mellitus

  0.37

• male reproductive organ cancer

  0.27

• benign prostatic hyperplasia

  0.27

• hypopituitarism

  0.19

• hereditary disease

  0.19

• Glucose intolerance

  0.19

• non-syndromic male infertility due to sperm motility disorder

  0.09

• spermatogenic failure

  0.09

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

Protein function (UniProt)