PTRHD1 Chromosome 2
Peptidyl-tRNA hydrolase domain containing 1
Upload your DNA to see your personal genotypes for variants in PTRHD1.
What This Gene Does
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]
Associated Conditions (2)
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
Parkinsonian disorder
Key Variants
RS553276736
Likely pathogenic
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
Health Risk
RS1057519631
Pathogenic
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
Health Risk
RS753386543
Pathogenic
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
Health Risk
RS781442277
Pathogenic
Parkinsonian disorder, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Parkinsonian disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS553276736 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities |
| RS1057519631 | Health Risk | Pathogenic | Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities |
| RS753386543 | Health Risk | Pathogenic | Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities |
| RS781442277 | Health Risk | Pathogenic | Parkinsonian disorder, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Parkinsonian disorder |