IQSEC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Early onset or syndromic epilepsy

  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)

• Fetal anomalies

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

Disease associations (Open Targets)

• intellectual disability, X-linked 1

  0.77

• X-linked non-syndromic intellectual disability

  0.71

• hereditary disease

  0.54

• neurodegenerative disease

  0.52

• Intellectual disability

  0.51

• Seizure

  0.46

• X-linked complex neurodevelopmental disorder

  0.37

• undetermined early-onset epileptic encephalopathy

  0.35

• Neurodevelopmental delay

  0.34

• paraplegia-intellectual disability-hyperkeratosis syndrome

  0.34

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

Protein function (UniProt)