SUCLG1

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

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Structural basal ganglia disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 9

  0.80

• Fatal infantile lactic acidosis with methylmalonic aciduria

  0.64

• neurodegenerative disease

  0.52

• mitochondrial DNA depletion syndrome

  0.51

• post term pregnancy

  0.30

• ovarian neoplasm

  0.28

• lysosomal storage disease

  0.25

• hereditary disease

  0.19

• Leigh syndrome

  0.19

• alcohol drinking

  0.16

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

Protein function (UniProt)