PREPL Chromosome 2
Prolyl endopeptidase like
Upload your DNA to see your personal genotypes for variants in PREPL.
What This Gene Does
The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
Associated Conditions (10)
Myasthenic syndrome
congenital
22
Inborn genetic diseases
PREPL-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Melanoma
Premature ovarian insufficiency
See cases
Key Variants
RS113913634
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS1201197937
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS1217582584
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS140165185
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS140990611
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS143785426
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS151116193
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS1672986669
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS199854790
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS375292548
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS758019788
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 22
Health Risk
RS1057523690
Likely pathogenic
Myasthenic syndrome, congenital, 22
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113913634 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS1201197937 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS1217582584 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS140165185 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS140990611 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS143785426 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS151116193 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS1672986669 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS199854790 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS375292548 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS758019788 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 22 |
| RS1057523690 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1673116593 | Health Risk | Likely pathogenic | — |
| RS1673169930 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1674217480 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2103914962 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466093446 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466279219 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS753545038 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS768538177 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1355856142 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1361739547 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1436090495 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1553351355 | Health Risk | Pathogenic | — |
| RS1553352792 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1553360075 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1558502635 | Health Risk | Pathogenic | Premature ovarian insufficiency, Premature ovarian insufficiency |
| RS1675812434 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2103925424 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2103986758 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2104270031 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466095416 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466120526 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466334369 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466493117 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS2466493535 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS371845821 | Health Risk | Pathogenic | — |
| RS748639083 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS775136514 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS779488471 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS779879227 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS983509465 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1172015222 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1316112168 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS145356495 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS148092524 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1553354962 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS1673549822 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS200761047 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |
| RS374594354 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 22 |