EARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

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Disease associations (Open Targets)

• Leukoencephalopathy - thalamus and brainstem anomalies - high lactate

  0.83

• leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

  0.75

• hereditary disease

  0.47

• mitochondrial disease

  0.41

• inborn mitochondrial metabolism disorder

  0.37

• Leigh syndrome

  0.37

• epilepsy

  0.37

• Global developmental delay

  0.34

• Limb tremor

  0.34

• Abnormal facial shape

  0.34

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

Protein function (UniProt)