TUFM

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 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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• combined oxidative phosphorylation defect type 4

  0.77

• neurodegenerative disease

  0.50

• COVID-19

  0.47

• combined oxidative phosphorylation deficiency

  0.37

• ulcerative colitis

  0.30

• intelligence

  0.24

• mitochondrial disease

  0.21

• hereditary disease

  0.19

• inborn mitochondrial metabolism disorder

  0.19

• metabolic syndrome

  0.17

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

Protein function (UniProt)