GAD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  Unknown

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

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Disease associations (Open Targets)

• developmental and epileptic encephalopathy 89

  0.69

• Inherited congenital spastic tetraplegia

  0.60

• neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

  0.54

• intelligence

  0.41

• type 2 diabetes mellitus

  0.32

• mathematical ability

  0.31

• stroke disorder

  0.29

• alcohol drinking

  0.29

• hereditary disease

  0.19

• glomerulonephritis

  0.19

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

Protein function (UniProt)