ClinGen Dosage Sensitivity Curation Page

NGLY1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)

Haploinsufficiency phenotype comments:

Variants in NGLY1 have been associated with congenital disorder of deglycosylation (OMIM:615273), an autosomal recessive condition.

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