PNPLA8 Chromosome 7
Patatin like domain 8, phospholipase A2
Upload your DNA to see your personal genotypes for variants in PNPLA8.
What This Gene Does
This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
Gene Info
Gene Group
Patatin like phospholipase domain containing
Locus Type
gene with protein product
Location
7q31.1
Ensembl
ENSG00000135241
Associated Conditions (4)
Mitochondrial myopathy-lactic acidosis-deafness syndrome
PNPLA8-related disorder
Inborn genetic diseases
Abnormality of the musculature
Key Variants
RS139626312
Conflicting classifications of pathogenicity
Mitochondrial myopathy-lactic acidosis-deafness syndrome, PNPLA8-related disorder, Mitochondrial myopathy-lactic acidosis-deafness syndrome
Health Risk
RS140010463
Conflicting classifications of pathogenicity
Inborn genetic diseases, PNPLA8-related disorder, Inborn genetic diseases
Health Risk
RS147242147
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147828742
Conflicting classifications of pathogenicity
Inborn genetic diseases, PNPLA8-related disorder, Inborn genetic diseases
Health Risk
RS200683131
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial myopathy-lactic acidosis-deafness syndrome, Inborn genetic diseases
Health Risk
RS765251445
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1598909288
Likely pathogenic
Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
Health Risk
RS1861563628
Likely pathogenic
Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
Health Risk
RS2154515356
Likely pathogenic
Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
Health Risk
RS2154516696
Likely pathogenic
Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
Health Risk
RS2552112201
Likely pathogenic
Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
Health Risk
RS770314806
Likely pathogenic
Abnormality of the musculature, Abnormality of the musculature
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139626312 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial myopathy-lactic acidosis-deafness syndrome, PNPLA8-related disorder, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS140010463 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PNPLA8-related disorder, Inborn genetic diseases |
| RS147242147 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147828742 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PNPLA8-related disorder, Inborn genetic diseases |
| RS200683131 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial myopathy-lactic acidosis-deafness syndrome, Inborn genetic diseases |
| RS765251445 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1598909288 | Health Risk | Likely pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS1861563628 | Health Risk | Likely pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS2154515356 | Health Risk | Likely pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS2154516696 | Health Risk | Likely pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS2552112201 | Health Risk | Likely pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS770314806 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS868796441 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1444737333 | Health Risk | Pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS1462456361 | Health Risk | Pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS1489220084 | Health Risk | Pathogenic | — |
| RS1863263928 | Health Risk | Pathogenic | — |
| RS1863267269 | Health Risk | Pathogenic | — |
| RS747930160 | Health Risk | Pathogenic | — |
| RS751849953 | Health Risk | Pathogenic | — |
| RS753758872 | Health Risk | Pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS768930646 | Health Risk | Pathogenic | — |
| RS774184465 | Health Risk | Pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS786205882 | Health Risk | Pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS1248710641 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| RS2552117876 | Health Risk | Pathogenic/Likely pathogenic | PNPLA8-related disorder, Mitochondrial myopathy-lactic acidosis-deafness syndrome, PNPLA8-related disorder |