VPS13D

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

  0.80

• Autosomal recessive cerebellar ataxia - saccadic intrusion

  0.78

• neurodegenerative disease

  0.53

• hereditary disease

  0.42

• autosomal recessive cerebellar ataxia

  0.34

• Leigh syndrome

  0.30

• chronic atrophic gastritis

  0.29

• spinocerebellar ataxia type 4

  0.27

• Spinocerebellar atrophy

  0.27

• male infertility

  0.27

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

Protein function (UniProt)