PDRG1

Chr 20

p53 and DNA damage regulated 1

Also known as: C20orf126, PDRG

NCBI Gene: 81572ENSG00000088356UniProt: Q9NUG6

PDRG1 encodes a protein that binds unfolded proteins and is involved in chaperone-mediated protein folding as part of the RPAP3/R2TP/prefoldin-like complex. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is not highly constrained against loss-of-function variants.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
15
P/LP submissions
0%
P/LP missense
1.55
LOEUF
—
Mechanism
Clinical Summary— PDRG1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 unique Pathogenic / Likely Pathogenic· 12 VUS of 34 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.55LOEUF
pLI 0.000
Z-score 0.51
OE 0.80 (0.44–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.43Z-score
OE missense 0.86 (0.69–1.06)
59 obs / 69.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.80 (0.44–1.55)
0≤0.351.4
Missense OE0.86 (0.69–1.06)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 6 / 7.5Missense obs/exp: 59 / 69.0Syn Z: 0.50

ClinVar Variant Classifications

34 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic5
VUS12
10
Pathogenic
5
Likely Pathogenic
12
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
5
0
5
VUS
0
6
6
0
12
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0621027

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PDRG1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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