GLS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  Unknown

• Corneal abnormalities

  Unknown

Disease associations (Open Targets)

• global developmental delay, progressive ataxia, and elevated glutamine

  0.64

• genetic developmental and epileptic encephalopathy

  0.63

• infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development

  0.59

• neurodegenerative disease

  0.37

• glutaminase deficiency

  0.37

• hereditary disease

  0.34

• multinodular goiter

  0.29

• response to antihypertensive drug

  0.29

• poisoning

  0.29

• systemic lupus erythematosus

  0.28

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

Protein function (UniProt)