Early-onset Dementia
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Mutations in PLA2G6 are shown to cause Parkinson’s and some individuals develop progressive dementia with Lewy bodies.
PMID: 20938027
Reported in three individuals (2 sibs) with early onset Parkinson disease with varying severities of dementia and frontotemporal lobar atrophy.Created: 16 Aug 2023, 4:23 a.m. | Last Modified: 16 Aug 2023, 4:23 a.m.
Panel Version: 0.179
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 14, autosomal recessive 612953
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Parkinson disease 14, autosomal recessive, MIM# 612953
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Additional findings_Paediatric
- Dystonia - complex
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pla2g6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLA2G6 were changed from to Parkinson disease 14, autosomal recessive, MIM# 612953
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PLA2G6 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLA2G6 was added gene: PLA2G6 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PLA2G6 was set to Unknown