PTRHD1

Chr 2AR

peptidyl-tRNA hydrolase domain containing 1

Also known as: C2orf79, NEDPBA

NCBI Gene: 391356ENSG00000184924UniProt: Q6GMV3OMIM: 617342

This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalitiesMIM #620747
AR
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -1.22
OE 1.59 (0.86–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.19Z-score
OE missense 1.06 (0.89–1.26)
89 obs / 84.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.59 (0.86–1.94)
0≤0.351.4
Missense OE?1.06 (0.89–1.26)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 8 / 5.0Missense obs/exp: 89 / 84.1Syn Z: -1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PTRHD1 · 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 →

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