Gene entry
PLA2G6
phospholipase A2 group VI
- Chromosome
- 22
- Cytoband
- 22q13.1
- Variants (rsID)
- 29
PLA2G6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.1). Its official name is “phospholipase A2 group VI”. The reference table lists 29 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs2267369Benignsingle nucleotide variantInfantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration
- rs121908680Conflicting interpretationssingle nucleotide variantInfantile neuroaxonal dystrophy|Iron accumulation in brain|Inborn genetic diseases|PLA2G6-associated neurodegeneration|Autosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B|Autism|Seizure|Neurodegeneration with brain iron accumulation 2B|Abnormality of the nervous system|Neurodegeneration with brain iron accumulation
- rs374746113Conflicting interpretationssingle nucleotide variantIron accumulation in brain|Inborn genetic diseases|Infantile neuroaxonal dystrophy
- rs535486098Likely pathogenicsingle nucleotide variantIron accumulation in brain|Neurodegeneration with brain iron accumulation 2B|Infantile neuroaxonal dystrophy
- rs121908681Pathogenicsingle nucleotide variantNeurodegeneration with brain iron accumulation 2B|Developmental regression|Congenital cerebellar hypoplasia|Cerebellar ataxia|Global developmental delay|Microcephaly|Autosomal recessive Parkinson disease 14
- rs121908682Pathogenicsingle nucleotide variantInfantile neuroaxonal dystrophy
- rs121908686Pathogenicsingle nucleotide variantAutosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B
- rs121908687Pathogenicsingle nucleotide variantAutosomal recessive Parkinson disease 14|Autosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B
- rs149712244Pathogenicsingle nucleotide variantIron accumulation in brain|Neurodegeneration with brain iron accumulation 2B|Inborn genetic diseases|Infantile neuroaxonal dystrophy
- rs200075782Pathogenicsingle nucleotide variantInfantile neuroaxonal dystrophy|Iron accumulation in brain
- rs370691849Pathogenicsingle nucleotide variantIron accumulation in brain
- rs587784327Pathogenicsingle nucleotide variantIron accumulation in brain|Infantile neuroaxonal dystrophy|Inborn genetic diseases
- rs587784353PathogenicDeletionInfantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B|Iron accumulation in brain
- rs587784359Pathogenicsingle nucleotide variantIron accumulation in brain|Infantile neuroaxonal dystrophy
- rs141777179Uncertain significancesingle nucleotide variantIron accumulation in brain|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.