Adult onset neurodegenerative disorder
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Infantile neuroaxonal dystrophy 1, 256600;PLA2G6-associated neurodegeneration;Neurodegeneration with brain iron accumulation 2B, 610217;Infantile neuroaxonal dystrophy 1 (#256600);Neurodegeneration with brain iron accumulation 2B (#610217);Parkinson disease 14 (#612953);Parkinson disease 14, 612953;Early Onset Complex DiseaseCreated: 29 Mar 2021, 10:58 a.m. | Last Modified: 29 Mar 2021, 10:58 a.m.
Panel Version: 2.116
Tracy Lester (Genetics laboratory, Oxford UK)
parkinsonism - young adult onset.: >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1, 256600; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217); Parkinson disease 14 (#612953); Parkinson disease 14, 612953; Early Onset Complex Disease
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Parkinson disease 14, autosomal recessive, OMIM:612953
- Neurodegeneration with brain iron accumulation 2B, OMIM:610217
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Lipodystrophy - childhood onset
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1, OMIM:256600; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Parkinson disease 14, OMIM:612953 to Parkinson disease 14, autosomal recessive, OMIM:612953; Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1, 256600; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217); Parkinson disease 14 (#612953); Parkinson disease 14, 612953; Early Onset Complex Disease to Infantile neuroaxonal dystrophy 1, OMIM:256600; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Parkinson disease 14, OMIM:612953
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to PLA2G6.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene PLA2G6 were changed from to 16783378; 18799783
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PLA2G6.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PLA2G6.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PLA2G6.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: amended
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes PLA2G6-associated neurodegeneration for gene: PLA2G6
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Infantile neuroaxonal dystrophy 1 (#256600); Parkinson disease 14 (#612953); Neurodegeneration with brain iron accumulation 2B (#610217) for gene: PLA2G6
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PLA2G6 was added gene: PLA2G6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, 612953; Early Onset Complex Disease