ADD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial Meniere Disease

Disease associations (Open Targets)

• neurodegenerative disease

  0.46

• Ventriculomegaly

  0.42

• Intellectual disability

  0.42

• Seizure

  0.42

• Global developmental delay

  0.42

• Abnormal corpus callosum morphology

  0.42

• neurodevelopmental disorder

  0.40

• smoking initiation

  0.30

• Tracheoesophageal fistula

  0.26

• esophageal atresia/tracheoesophageal fistula

  0.26

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

Protein function (UniProt)