CAMTA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• cerebellar dysfunction with variable cognitive and behavioral abnormalities

  0.78

• Non-progressive cerebellar ataxia with intellectual disability

  0.77

• hereditary disease

  0.53

• prostate adenocarcinoma

  0.40

• Intellectual disability

  0.37

• breast ductal adenocarcinoma

  0.37

• lung carcinoma

  0.37

• exocrine pancreatic carcinoma

  0.37

• pancreatic ductal adenocarcinoma

  0.37

• HER2 positive breast carcinoma

  0.37

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

Protein function (UniProt)