SLC12A5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• malignant migrating partial seizures of infancy

  0.67

• idiopathic generalized epilepsy

  0.60

• genetic developmental and epileptic encephalopathy

  0.48

• epilepsy of infancy with migrating focal seizures

  0.47

• Febrile seizure (within the age range of 3 months to 6 years)

  0.37

• neurodegenerative disease

  0.35

• major depressive disorder

  0.25

• mental disorder

  0.23

• Abnormality of the breast

  0.18

• schizophrenia

  0.16

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

Protein function (UniProt)