NGLY1

Chr 3

N-glycanase 1

Also known as: CDDG, CDG1V, PNG-1, PNG1, PNGase

NCBI Gene: 55768ENSG00000151092UniProt: Q96IV0

This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of deglycosylation 1

Clinical highlights

Gene-disease validity (ClinGen)
congenital disorder of deglycosylation 1 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
LOF
Mechanism· G2P
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GeneReview available — NGLY1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.80
OE 0.68 (0.50–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.07Z-score
OE missense 1.01 (0.92–1.11)
336 obs / 332.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.68 (0.50–0.95)
0≤0.351.4
Missense OE?1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 26 / 38.0Missense obs/exp: 336 / 332.3Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NGLY1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients