Hereditary ataxia
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
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Loads of evidence in literatureCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217); Parkinson disease 14 (#612953)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
-
- Structural basal ganglia disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia
- Fetal anomalies
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)PLA2G6 was added to Hereditary ataxiapanel. Sources: Expert Review
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)PLA2G6 was created by jonathan.williams