Hereditary Neuropathy - complex
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Both peripheral and central nervous systems are affected, ECS abnormal.Created: 8 Aug 2023, 6:35 a.m. | Last Modified: 8 Aug 2023, 6:35 a.m.
Panel Version: 0.225
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217); Parkinson disease 14, autosomal recessive (MIM#612953)
Publications
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease associated with neuropathy as a clinical feature.
PMID: 25164370
9 individuals from 6 unrelated families with motor or sensory-motor neuropathy. All individuals were found to share the p.V691del variant which is a founder variant in the North African population.Created: 15 Aug 2023, 12:43 a.m. | Last Modified: 15 Aug 2023, 12:43 a.m.
Panel Version: 0.275
Neuropathy not a prominent feature of the conditionsCreated: 7 Aug 2023, 11:14 p.m. | Last Modified: 7 Aug 2023, 11:14 p.m.
Panel Version: 0.215
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217); Parkinson disease 14, autosomal recessive (MIM#612953)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Infantile neuroaxonal dystrophy 1 (MIM#256600)
- Neurodegeneration with brain iron accumulation 2B (MIM#610217)
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Additional findings_Paediatric
- Dystonia - complex
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pla2g6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLA2G6 were changed from Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI to Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PLA2G6 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI