PRUNE1 Chromosome 1
Prune exopolyphosphatase 1
Upload your DNA to see your personal genotypes for variants in PRUNE1.
What This Gene Does
This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Associated Conditions (8)
Malignant tumor of urinary bladder
Neurodevelopmental disorder with microcephaly
hypotonia
and variable brain anomalies
Abnormal brain morphology
PRUNE1-related disorder
Squamous cell lung carcinoma
Inborn genetic diseases
Key Variants
RS150450383
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
Health Risk
RS369087771
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Health Risk
RS1232331611
Likely pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Health Risk
RS1245016196
Likely pathogenic
Health Risk
RS1553254265
Likely pathogenic
Health Risk
RS200618384
Likely pathogenic
Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, hypotonia
Health Risk
RS587684563
Likely pathogenic
PRUNE1-related disorder, PRUNE1-related disorder
Health Risk
RS756542737
Likely pathogenic
Health Risk
RS886039608
Likely pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Health Risk
RS1085308033
Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Health Risk
RS1300245991
Pathogenic
Health Risk
RS1456845940
Pathogenic
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150450383 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS369087771 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1232331611 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1245016196 | Health Risk | Likely pathogenic | — |
| RS1553254265 | Health Risk | Likely pathogenic | — |
| RS200618384 | Health Risk | Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, hypotonia |
| RS587684563 | Health Risk | Likely pathogenic | PRUNE1-related disorder, PRUNE1-related disorder |
| RS756542737 | Health Risk | Likely pathogenic | — |
| RS886039608 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1085308033 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1300245991 | Health Risk | Pathogenic | — |
| RS1456845940 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1553251507 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553253812 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1674200670 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1674240509 | Health Risk | Pathogenic | — |
| RS2102908451 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS2528381693 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS752599948 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS1057521927 | Health Risk | Pathogenic/Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, hypotonia |
| RS137929776 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RS767769359 | Health Risk | Pathogenic/Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, hypotonia |
| RS773618224 | Health Risk | Pathogenic/Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, hypotonia |