ATXN2L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• neurodegenerative disease

  0.28

• Crohn disease

  0.25

• obesity disorder

  0.20

• atrial fibrillation

  0.18

• Intellectual disability

  0.18

• Macrocephaly

  0.18

• neurodevelopmental disorder

  0.12

• marfanoid habitus and intellectual disability

  0.12

• intelligence

  0.11

• type 2 diabetes mellitus

  0.10

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

Protein function (UniProt)