ELAC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

• Paediatric or syndromic cardiomyopathy

  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)

• combined oxidative phosphorylation defect type 17

  0.81

• prostate cancer, hereditary, 2

  0.73

• hereditary disease

  0.50

• Intellectual disability

  0.43

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• mitochondrial complex I deficiency, nuclear type 1

  0.37

• ovarian cancer

  0.34

• viral pneumonia

  0.29

• type 2 diabetes mellitus

  0.24

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

Protein function (UniProt)