LIG3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal neuromuscular disorders

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  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

• Paediatric pseudo-obstruction syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 20 (mngie type)

  0.66

• cerebellar ataxia

  0.55

• Ataxia

  0.55

• Leukoencephalopathy

  0.55

• Neurogenic bladder

  0.55

• macular degeneration

  0.55

• Spasticity

  0.55

• Cerebellar atrophy

  0.55

• Motor stereotypy

  0.55

• neurodegenerative disease

  0.43

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

Protein function (UniProt)

Diseases associated with LIG3

Curated MONDO disease pages that list LIG3 among their top associated genes.

• cerebellar ataxiaRare