Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a both DD and IF G2P for Infantile neuroaxonal dystrophy 1 256600 (Neurodegeneration with brain iron accumulation-2A) and Neurodegeneration with brain iron accumulation 2B 610217.
At least 7 variants reported in Infantile neuroaxonal dystrophy 1 256600 (Neurodegeneration with brain iron accumulation-2A), at least 3 variants reported in Neurodegeneration with brain iron accumulation 2B 610217 and at least 6 variants reported in Parkinson disease 14, autosomal recessive 612953.Created: 6 Mar 2017, 4:50 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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, autosomal recessive 612953
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PLA2G6 were set to Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953
6 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for PLA2G6 were set to 16783378; 18799783; 18570303
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)PLA2G6 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)PLA2G6 was created by Manju