Hereditary ataxia with onset in adulthood
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
On Oxford and Sheffield panels. 164 DM in HGMD. Cerebellar atrophy and ataxia are HPO terms associated with PLA2G6.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Lots of reports in the literature - associated with a spectrum of disease, INAD at one end and Parkinson disease at the otherCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1, 256600, Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive 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
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Parkinson disease 14 (#612953)
- Autosomal recessive Parkinson disease 14, 612953
- Infantile neuroaxonal dystrophy 1 (#256600)
- Neurodegeneration with brain iron accumulation 2B, 610217
- Neurodegeneration with brain iron accumulation 2B (#610217)
- Infantile neuroaxonal dystrophy 1, 256600
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- 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
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to PLA2G6.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal recessive Parkinson disease 14, 612953; Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: 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 Wessex and West Midlands GLH was added to PLA2G6.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217)