NFU1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  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

• Pyruvate dehydrogenase (PDH) deficiency

  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)

• multiple mitochondrial dysfunctions syndrome 1

  0.81

• Fatal multiple mitochondrial dysfunction syndrome type 1

  0.66

• spastic paraplegia 93, autosomal recessive

  0.59

• Fatal multiple mitochondrial dysfunction syndrome

  0.57

• neurodegenerative disease

  0.56

• Fatal multiple mitochondrial dysfunction syndrome type 2

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• dentures

  0.36

• osteoarthritis, hip

  0.34

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

Protein function (UniProt)