DNA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Mitochondrial disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Mitochondrial DNA maintenance disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Possible mitochondrial disorder - nuclear genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cerebral vascular malformations

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA deletion syndrome with progressive myopathy

  0.80

• Seckel syndrome 8

  0.66

• Rothmund-Thomson syndrome type 4

  0.59

• Seckel syndrome

  0.56

• cancer

  0.55

• Rothmund-Thomson syndrome

  0.51

• microcephalic primordial dwarfism

  0.46

• hereditary disease

  0.34

• Non-acquired isolated growth hormone deficiency

  0.26

• Tietze syndrome

  0.26

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

Protein function (UniProt)