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Recognized gene
PLA2G6
Normalized c.HGVS
c.1036C>T, c.1037G>A, c.1048G>A, c.104G>A, c.116G>A and 44 more
Normalized p.HGVS
p.(=), p.(Ala147Thr), p.(Ala464Val), p.(Ala525Thr), p.(Ala718Thr) and 44 more
Matching records
181
PM3-positive records
15
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| PLA2G6 |
NM_003560.4:c.116G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.967G>A; p.Val323Met
context: Confirmed in trans
|
35911906
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.
Frontiers in neurology, 2022
|
Main article | |
| PLA2G6 |
NM_003560.4:c.481C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40360258
Clinical and genetic characteristics of PLA2G6-related parkinsonism in Southwest China and a comprehensive literature review.
Journal of medical genetics, 2025
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1400T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40335451
Genetic Sketch of Parkinson's Disease in India.
Annals of Indian Academy of Neurology, 2025
|
Main article | |
| PLA2G6 |
NM_003560.4:c.68G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39202603
Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.
Medicina (Kaunas, Lithuania), 2024
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1037G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1742G>A; p.Arg581Gln
context: Compound heterozygous candidate
|
39184971
The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.
Tremor and other hyperkinetic movements (New York, N.Y.), 2024
|
Main article | |
| PLA2G6 |
NM_003560.4:c.116G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.967G>A
context: Compound heterozygous candidate
|
38699051
A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review.
Frontiers in neurology, 2024
|
Main article | |
| PLA2G6 |
NM_003560.4:c.16C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38622594
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
BMC medical genomics, 2024
|
Main article | |
| PLA2G6 |
NM_003560.4:c.2257G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34602496
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Journal of neuromuscular diseases, 2022
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1573G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1670C>T; p.Ser557Leu
context: Compound heterozygous candidate
|
31496990
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.
Frontiers in neurology, 2019
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1696C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
29554876
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
BMC medical genetics, 2018
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1472T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.404T>C; p.Phe135Ser
context: Compound heterozygous candidate
|
27196560
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
PloS one, 2016
|
Supplementary material | |
| PLA2G6 |
NM_003560.4:c.2030G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27196560
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
PloS one, 2016
|
Supplementary material | |
| PLA2G6 |
NM_003560.4:c.2375A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27196560
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
PloS one, 2016
|
Supplementary material | |
| PLA2G6 |
NM_003560.4:c.1573G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1670C>T; p.S557L
context: Compound heterozygous candidate
|
26196026
PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.
Tremor and other hyperkinetic movements (New York, N.Y.), 2015
|
Main article | |
| PLA2G6 |
NM_003560.4:c.2375A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
24745848
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
Molecular genetics and metabolism, 2014
|
Main article | |
| PLA2G6 |
NM_003560.4:c.991G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41813186
[A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].
Rinsho shinkeigaku = Clinical neurology, 2026
|
Unknown | |
| PLA2G6 |
NM_003560.4:c.991G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41486122
Effect of deep brain stimulation on early-onset Parkinson's disease with mutations in a Han Chinese Mainland population.
BMC neurology, 2026
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1381C>T
|
No PM3 Evidence Identified
High confidence
|
No PM3 candidate genotype identified |
41074695
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society, 2026
|
Main article | |
| PLA2G6 |
NM_003560.4:c.1826G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41074695
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society, 2026
|
Main article | |
| PLA2G6 |
NM_003560.4:c.991G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41074695
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society, 2026
|
Main article | |