PLA2G6 Chromosome 22

Phospholipase A2 group VI
231 variants 231 Health Risk

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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
RS1064796469 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS11570607 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Spastic ataxia, Infantile neuroaxonal dystrophy
RS1175689296 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1194286714 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS121908680 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Iron accumulation in brain, Inborn genetic diseases
RS121908682 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS121908685 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS1282655744 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy, Inborn genetic diseases
RS1296348337 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS1356679312 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS139093920 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS139184008 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS139579057 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B
RS140758033 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS141045127 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, PLA2G6-related disorder
RS141825182 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS142530390 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B
RS142715413 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS143826762 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy
RS144033740 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS144910769 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Neurodegeneration with brain iron accumulation 2B
RS1456513786 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS146252218 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Thyroid cancer
RS146684391 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS147066967 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Inborn genetic diseases, Infantile neuroaxonal dystrophy
RS147455037 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS147924368 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS147948449 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy
RS149653983 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS150024227 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14
RS150190277 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain
RS150572286 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS151108668 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1555979298 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1555988382 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1555988730 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1556010444 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1569264087 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS199636953 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Inborn genetic diseases, Infantile neuroaxonal dystrophy
RS200032947 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy, Iron accumulation in brain
RS200117092 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS200599704 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS201657455 Health Risk Conflicting classifications of pathogenicity Abnormality of the nervous system, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS201801144 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Inborn genetic diseases, Infantile neuroaxonal dystrophy
RS2087135251 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2087183662 Health Risk Conflicting classifications of pathogenicity —
RS2087627455 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-related disorder, Infantile neuroaxonal dystrophy
RS2145803751 Health Risk Conflicting classifications of pathogenicity —
RS368487831 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS368514303 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14
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