RNASEH2C

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Aicardi-Goutières syndrome

  0.80

• Aicardi-Goutieres syndrome 3

  0.75

• Aicardi-Goutieres syndrome

  0.64

• type 1 interferonopathy

  0.46

• hereditary disease

  0.41

• neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

  0.39

• Intellectual disability

  0.37

• RNASEH2C-related type 1 interferonopathy

  0.37

• Abnormality of the nervous system

  0.34

• gout

  0.18

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

Protein function (UniProt)