Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Infantile neuroaxonal dystrophy 1 (#256600)
- Parkinson disease 14 (#612953)
- Neurodegeneration with brain iron accumulation 2B (#610217)
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Intellectual disability
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Severe insulin resistance and lipodystrophy syndromes
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PLA2G6 was added gene: PLA2G6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 (#256600); Parkinson disease 14 (#612953); Neurodegeneration with brain iron accumulation 2B (#610217)