Hereditary neuropathy or pain disorder
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). Biallelic variant in PLA2G6 are associated with multiple neurodegenerative phenotypes with overlapping clinical and radiologic features including Infantile neuroaxonal dystrophy (MIM# 256600), Neurodegeneration with brain iron accumulation (MIM# 610217) and Parkinson disease (MIM# 612953). Although not universal, progressive motor axonal neuropathy has been reported as an early feature in multiple patients harbouring PLA2G6 variants (PMID: 18443314; 25164370; 27882168; 29859652; 30340910). Neuropathy can present earlier than other typical features such as iron accumulation in the brain and has represented the main diagnostic feature in some cases. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 31 Oct 2024, 11:06 a.m. | Last Modified: 31 Oct 2024, 11:06 a.m.
Panel Version: 6.4
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 2B, OMIM:610217
- Infantile neuroaxonal dystrophy 1, OMIM:256600
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- Complete
- 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
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: PLA2G6. Tag Q3_24_NHS_review was removed from gene: PLA2G6.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to PLA2G6. Source Expert Review Green was added to PLA2G6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PLA2G6 were changed from Neurodegeneration with brain iron accumulation; peripheral neuropathy to Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Infantile neuroaxonal dystrophy 1, OMIM:256600
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PLA2G6 were set to 18443314: 16783378:
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: PLA2G6. Tag Q3_24_NHS_review tag was added to gene: PLA2G6.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 18443314: 16783378: Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation; peripheral neuropathy Penetrance for gene: PLA2G6 were set to Complete Review for gene: PLA2G6 was set to GREEN