VLDLR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Dysequilibrium syndrome

  0.79

• Cerebellar hypoplasia

  0.55

• cerebellar ataxia, intellectual disability, and dysequilibrium

  0.38

• hereditary disease

  0.34

• Abnormality of the nervous system

  0.34

• hyperlipidemia

  0.33

• alcohol drinking

  0.32

• metabolic disease

  0.32

• placental abruption

  0.29

• adolescent idiopathic scoliosis

  0.28

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

Protein function (UniProt)