ClinGen Dosage Sensitivity Curation Page

GLUL

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: GLUTAMINE DEFICIENCY, CONGENITAL

Haploinsufficiency phenotype comments:

Variants in GLUL have been identified in individuals with congenital glutamine deficiency, an autosomal recessive condition.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity