ITPR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Sporadic aniridia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+5 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Aniridia - cerebellar ataxia - intellectual disability

  0.81

• spinocerebellar ataxia type 29

  0.81

• aniridia-cerebellar ataxia-intellectual disability syndrome

  0.80

• spinocerebellar ataxia type 15/16

  0.76

• hereditary disease

  0.53

• neurodevelopmental disorder

  0.43

• alcohol drinking

  0.43

• uterine corpus leiomyoma

  0.41

• breast carcinoma

  0.40

• cervical carcinoma

  0.34

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

Protein function (UniProt)