TRMT10A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Congenital hyperinsulinism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• microcephaly, short stature, and impaired glucose metabolism 1

  0.73

• primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

  0.72

• hereditary disease

  0.47

• Primary microcephaly

  0.37

• intellectual developmental disorder, autosomal recessive 68

  0.37

• Abnormality of the nervous system

  0.27

• placental retention

  0.25

• liver disorder

  0.14

• Abnormality of the liver

  0.11

• cirrhosis of liver

  0.08

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

Protein function (UniProt)