LARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Perrault syndrome 4

  0.80

• hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

  0.77

• Perrault syndrome

  0.74

• Mitochondrial myopathy and sideroblastic anemia

  0.70

• neurodegenerative disease

  0.55

• nonsyndromic genetic hearing loss

  0.43

• leukodystrophy

  0.42

• hereditary disease

  0.41

• Rare genetic deafness

  0.41

• Perrault syndrome 2

  0.37

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

Protein function (UniProt)