PCYT2 Chromosome 17
Phosphate cytidylyltransferase 2, ethanolamine
Upload your DNA to see your personal genotypes for variants in PCYT2.
What This Gene Does
This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Associated Conditions (4)
Spastic paraplegia 82
autosomal recessive
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Key Variants
RS2040278710
Conflicting classifications of pathogenicity
Spastic paraplegia 82, autosomal recessive, Inborn genetic diseases
Health Risk
RS1436764763
Likely pathogenic
Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82
Health Risk
RS2510045525
Likely pathogenic
Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82
Health Risk
RS2510047496
Likely pathogenic
Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82
Health Risk
RS751856962
Likely pathogenic
Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82
Health Risk
RS778113360
Likely pathogenic
Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82
Health Risk
RS1365461027
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763945631
Pathogenic
Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82
Health Risk
RS953415774
Pathogenic
Spastic paraplegia 82, autosomal recessive, Ovarian serous cystadenocarcinoma
Health Risk
RS377278120
Pathogenic/Likely pathogenic
Spastic paraplegia 82, autosomal recessive, Inborn genetic diseases
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2040278710 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia 82, autosomal recessive, Inborn genetic diseases |
| RS1436764763 | Health Risk | Likely pathogenic | Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82 |
| RS2510045525 | Health Risk | Likely pathogenic | Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82 |
| RS2510047496 | Health Risk | Likely pathogenic | Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82 |
| RS751856962 | Health Risk | Likely pathogenic | Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82 |
| RS778113360 | Health Risk | Likely pathogenic | Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82 |
| RS1365461027 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS763945631 | Health Risk | Pathogenic | Spastic paraplegia 82, autosomal recessive, Spastic paraplegia 82 |
| RS953415774 | Health Risk | Pathogenic | Spastic paraplegia 82, autosomal recessive, Ovarian serous cystadenocarcinoma |
| RS377278120 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia 82, autosomal recessive, Inborn genetic diseases |