TMEM126B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex I deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency, nuclear type 29

  0.70

• mitochondrial complex I deficiency

  0.70

• neurodegenerative disease

  0.51

• mitochondrial disease

  0.51

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial complex I deficiency, nuclear type 1

  0.37

• hereditary disease

  0.19

• mathematical ability

  0.13

• device complication

  0.10

• Abnormal nasolacrimal system morphology

  0.10

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

Protein function (UniProt)