SLC25A22

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• genetic developmental and epileptic encephalopathy

  0.71

• early-infantile DEE

  0.68

• myoclonic epilepsy

  0.46

• malignant migrating partial seizures of infancy

  0.37

• epilepsy of infancy with migrating focal seizures

  0.37

• developmental and epileptic encephalopathy

  0.19

• hereditary disease

  0.19

• Macrocephaly

  0.12

• Seizure

  0.11

• prostate cancer

  0.11

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

Protein function (UniProt)