PTRH2
Chr 17ARpeptidyl-tRNA hydrolase 2
Also known as: BIT1, CFAP37, CGI-147, IMNEPD, PTH 2, PTH2
The encoded mitochondrial protein functions as a peptidyl-tRNA hydrolase that releases tRNAs from ribosomes during protein synthesis and regulates cell survival and apoptosis pathways. Mutations cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreatic insufficiency. This condition follows autosomal recessive inheritance with onset in infancy affecting neurologic, endocrine, and gastrointestinal systems.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
69 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 | 1 | 1 | 11 | 0 | 13 |
Likely Pathogenic | 6 | 1 | 4 | 0 | 11 |
VUS | 2 | 21 | 3 | 0 | 26 |
Likely Benign | 0 | 2 | 8 | 6 | 16 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 9 | 25 | 27 | 6 | 67 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PTRH2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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