PTRHD1
Chr 2ARpeptidyl-tRNA hydrolase domain containing 1
Also known as: C2orf79, NEDPBA
This gene encodes a putative peptidyl-tRNA hydrolase that may be involved in releasing tRNAs from ribosomes during protein synthesis, though its enzymatic activity remains uncertain. Mutations cause autosomal recessive neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
73 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 3 | 19 | 0 | 22 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 28 | 8 | 0 | 36 |
Likely Benign | 0 | 1 | 0 | 4 | 5 |
Benign | 0 | 1 | 2 | 0 | 3 |
| Total | 1 | 33 | 30 | 4 | 68 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in 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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools