GRM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive spinocerebellar ataxia 13

  0.76

• Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

  0.71

• Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

  0.68

• spinocerebellar ataxia 44

  0.68

• autosomal dominant cerebellar ataxia

  0.56

• Adult-onset autosomal recessive cerebellar ataxia

  0.55

• cerebellar ataxia

  0.37

• fragile X syndrome

  0.35

• Global developmental delay

  0.34

• schizophrenia

  0.33

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

Protein function (UniProt)