Dystonia, chorea or related movement disorder, adult onset
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James 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, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- 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
-
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PLA2G6 were changed from PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600 to Parkinson disease 14, autosomal recessive, OMIM:612953; Neurodegeneration with brain iron accumulation 2B, OMIM:610217
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.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PLA2G6 was added gene: PLA2G6 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378 Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600