DPYSL5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Ritscher-Schinzel syndrome 4

  0.63

• 3C syndrome

  0.37

• complex neurodevelopmental disorder

  0.37

• neurodegenerative disease

  0.33

• clonal hematopoiesis

  0.28

• hereditary disease

  0.19

• essential hypertension

  0.17

• hypertensive disorder

  0.15

• Dandy-Walker syndrome

  0.11

• Genetic syndrome with a Dandy-Walker malformation as major feature

  0.11

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

Protein function (UniProt)