EFTUD2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Choanal atresia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Deafness and congenital structural abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• mandibulofacial dysostosis-microcephaly syndrome

  0.83

• hereditary disease

  0.54

• neurodegenerative disease

  0.48

• Global developmental delay

  0.41

• plasma cell myeloma

  0.37

• dengue disease

  0.37

• mandibulofacial dysostosis

  0.35

• cleft lip/palate

  0.34

• esophageal atresia/tracheoesophageal fistula

  0.33

• Tracheoesophageal fistula

  0.33

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

Protein function (UniProt)