PLA2G6 Chromosome 22
Phospholipase A2 group VI
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What This Gene Does
The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Patatin like phospholipase domain containing|Phospholipases"
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000184381
Associated Conditions (29)
PLA2G6-associated neurodegeneration
Spastic ataxia
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation 2B
Acute myeloid leukemia
Iron accumulation in brain
Inborn genetic diseases
Autism
Seizure
Abnormality of the nervous system
Neurodegeneration with brain iron accumulation
PLA2G6-related disorder
Thyroid cancer
nonmedullary
1
Abnormal brain morphology
Adult onset neurodegenerative disorder
Familial prostate cancer
Ovarian serous cystadenocarcinoma
+9 more conditions
Key Variants
RS1064796469
Conflicting classifications of pathogenicity
PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
Health Risk
RS11570607
Conflicting classifications of pathogenicity
PLA2G6-associated neurodegeneration, Spastic ataxia, Infantile neuroaxonal dystrophy
Health Risk
RS1175689296
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
Health Risk
RS1194286714
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
Health Risk
RS121908680
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, Iron accumulation in brain, Inborn genetic diseases
Health Risk
RS121908682
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Health Risk
RS121908685
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
Health Risk
RS1282655744
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy, Inborn genetic diseases
Health Risk
RS1296348337
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Health Risk
RS1356679312
Conflicting classifications of pathogenicity
PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
Health Risk
RS139093920
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
Health Risk
RS139184008
Conflicting classifications of pathogenicity
Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
Health Risk
All Variants (231)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370288820 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy |
| RS370528124 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Inborn genetic diseases, Infantile neuroaxonal dystrophy |
| RS370691849 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS371094406 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS371920697 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS372128546 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS372291638 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14 |
| RS373930150 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS374746113 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Inborn genetic diseases, Infantile neuroaxonal dystrophy |
| RS375740918 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy |
| RS528966598 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy |
| RS546742857 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain |
| RS547175863 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration |
| RS552606315 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS561645994 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS587784326 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS587784328 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain |
| RS587784331 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, PLA2G6-associated neurodegeneration, Iron accumulation in brain |
| RS587784335 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain |
| RS587784337 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, PLA2G6-associated neurodegeneration, Iron accumulation in brain |
| RS587784338 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain |
| RS587784341 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain |
| RS587784346 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS587784347 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS587784349 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS587784351 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS587784360 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation |
| RS587784363 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS587784364 | Health Risk | Conflicting classifications of pathogenicity | Iron accumulation in brain, Iron accumulation in brain |
| RS745643715 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS746217497 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Inborn genetic diseases |
| RS746405809 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS749966284 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Inborn genetic diseases |
| RS751225193 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS751696120 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14 |
| RS754204295 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration |
| RS760482527 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy |
| RS761202760 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS762928103 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy |
| RS764286950 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive Parkinson disease 14, Autosomal recessive Parkinson disease 14 |
| RS764957976 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation |
| RS765125582 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy |
| RS769000561 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration |
| RS772131195 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Inborn genetic diseases |
| RS776713955 | Health Risk | Conflicting classifications of pathogenicity | Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B |
| RS776753796 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS778225931 | Health Risk | Conflicting classifications of pathogenicity | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration |
| RS797045889 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B |
| RS1000303487 | Health Risk | Likely pathogenic | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy |
| RS1030529431 | Health Risk | Likely pathogenic | — |