This Panel is marked as Internal
Early onset and familial Parkinson's Disease
Gene: PLA2G6
PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Is also in the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)Created: 10 Jun 2016, 11:17 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Infantile neuroaxonal dystrophy 1, 256600
- Neurodegeneration with brain iron accumulation 2B, 610217
- Parkinson disease 14, 612953
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Early onset or syndromic epilepsy
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary neuropathy or pain disorder
- Lipodystrophy - childhood onset
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
History Filter Activity
10 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PLA2G6 was changed to BIALLELIC, autosomal or pseudoautosomal
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PLA2G6 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen