Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:55870351
- GRCh38:
- Chr2:55643216
| PNPT1 | | Combined oxidative phosphorylation defect type 13 | Likely pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:55870290
- GRCh38:
- Chr2:55643155
| PNPT1 | | Spinocerebellar ataxia type 25 | Pathogenic
(Jul 11, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:55874565
- GRCh38:
- Chr2:55647430
| PNPT1 | A507S | Inborn genetic diseases, Neurodevelopmental disorder, Autosomal recessive nonsyndromic hearing loss 70,
Spinocerebellar ataxia type 25, not provided, Combined oxidative phosphorylation defect type 13,
Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70 | Conflicting interpretations of pathogenicity
(Jul 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:55908014
- GRCh38:
- Chr2:55680879
| PNPT1 | P165S | not provided, Combined oxidative phosphorylation defect type 13, Spinocerebellar ataxia type 25
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:55874559
- GRCh38:
- Chr2:55647424
| PNPT1 | V509I | not provided, Inborn genetic diseases, Spinocerebellar ataxia type 25,
not specified, Combined oxidative phosphorylation defect type 13 | Conflicting interpretations of pathogenicity
(Jul 24, 2023) | criteria provided, conflicting interpretations |