SLC25A12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 39

  0.77

• Epileptic encephalopathy with global cerebral demyelination

  0.76

• hereditary disease

  0.42

• Global developmental delay

  0.37

• male infertility

  0.28

• developmental and epileptic encephalopathy, 1

  0.27

• Spasticity - intellectual disability - X-linked epilepsy

  0.27

• Hypermetropia

  0.26

• ovarian neoplasm

  0.24

• mitochondrial disease

  0.19

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

Protein function (UniProt)