PNPT1 Chromosome 2
Polyribonucleotide nucleotidyltransferase 1
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What This Gene Does
The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
Associated Conditions (9)
Inborn genetic diseases
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Spinocerebellar ataxia type 25
PNPT1-related disorder
Familial cancer of breast
Neurodevelopmental disorder
Ovarian serous cystadenocarcinoma
Global developmental delay
Key Variants
RS142840568
Conflicting classifications of pathogenicity
Health Risk
RS143022417
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146571352
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, Inborn genetic diseases
Health Risk
RS147375807
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151166046
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 13, Spinocerebellar ataxia type 25, Combined oxidative phosphorylation defect type 13
Health Risk
RS1572796197
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70
Health Risk
RS187922600
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199712282
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70
Health Risk
RS200088200
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
Health Risk
RS201269381
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201931980
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202190573
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142840568 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143022417 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146571352 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, Inborn genetic diseases |
| RS147375807 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151166046 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Spinocerebellar ataxia type 25, Combined oxidative phosphorylation defect type 13 |
| RS1572796197 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70 |
| RS187922600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199712282 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70 |
| RS200088200 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS201269381 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201931980 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202190573 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70 |
| RS34928857 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, PNPT1-related disorder |
| RS372627112 | Health Risk | Conflicting classifications of pathogenicity | PNPT1-related disorder, PNPT1-related disorder |
| RS374698153 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 70 |
| RS540498342 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70 |
| RS542676905 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS551750608 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571532949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS574670461 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, PNPT1-related disorder |
| RS746676928 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752666494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752759589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754237697 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756714219 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS76401964 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Inborn genetic diseases, Familial cancer of breast |
| RS767310806 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS772153760 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774197508 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774425075 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS779794474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863224169 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS930190521 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1023469259 | Health Risk | Likely pathogenic | — |
| RS1209582847 | Health Risk | Likely pathogenic | — |
| RS1243776150 | Health Risk | Likely pathogenic | — |
| RS1321427758 | Health Risk | Likely pathogenic | — |
| RS1329170892 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS1365308037 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS1448753696 | Health Risk | Likely pathogenic | PNPT1-related disorder, PNPT1-related disorder |
| RS1553493871 | Health Risk | Likely pathogenic | — |
| RS1572834021 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1695931094 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS1697407694 | Health Risk | Likely pathogenic | — |
| RS2529481366 | Health Risk | Likely pathogenic | — |
| RS2529522692 | Health Risk | Likely pathogenic | PNPT1-related disorder, PNPT1-related disorder |
| RS2529537059 | Health Risk | Likely pathogenic | — |
| RS2529541638 | Health Risk | Likely pathogenic | — |
| RS2529569771 | Health Risk | Likely pathogenic | — |
| RS2529576283 | Health Risk | Likely pathogenic | — |