TBL1XR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• 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

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Pierpont syndrome

  0.78

• intellectual disability, autosomal dominant 41

  0.75

• diffuse large B-cell lymphoma

  0.59

• neurodegenerative disease

  0.55

• asthma

  0.50

• hereditary disease

  0.48

• complex neurodevelopmental disorder

  0.43

• respiratory system disorder

  0.42

• adult onset asthma

  0.42

• Intellectual disability

  0.40

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

Protein function (UniProt)