PTDSS1 Chromosome 8
Phosphatidylserine synthase 1
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What This Gene Does
The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Associated Conditions (2)
Lenz-Majewski hyperostosis syndrome
Inborn genetic diseases
Key Variants
RS1001297917
Conflicting classifications of pathogenicity
Health Risk
RS1811177590
Conflicting classifications of pathogenicity
Lenz-Majewski hyperostosis syndrome, Inborn genetic diseases, Lenz-Majewski hyperostosis syndrome
Health Risk
RS370004918
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS564223313
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751543129
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781468003
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057521718
Likely pathogenic
Health Risk
RS1811091915
Likely pathogenic
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
Health Risk
RS587777088
Pathogenic
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
Health Risk
RS587777089
Pathogenic
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
Health Risk
RS587777090
Pathogenic
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
Health Risk
RS1131691429
Pathogenic/Likely pathogenic
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1001297917 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1811177590 | Health Risk | Conflicting classifications of pathogenicity | Lenz-Majewski hyperostosis syndrome, Inborn genetic diseases, Lenz-Majewski hyperostosis syndrome |
| RS370004918 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS564223313 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751543129 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781468003 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057521718 | Health Risk | Likely pathogenic | — |
| RS1811091915 | Health Risk | Likely pathogenic | Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS587777088 | Health Risk | Pathogenic | Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS587777089 | Health Risk | Pathogenic | Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS587777090 | Health Risk | Pathogenic | Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS1131691429 | Health Risk | Pathogenic/Likely pathogenic | Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |