Neurodegeneration with brain iron accumulation
Gene: PLA2G6
PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Brain iron accumulation is a presenting feature in some of the affected individuals.
PMID: 20301718 - iron accumulation in the globus pallidus is a common feature of the condition however appears to present later in disease progression and is not present in all affected individuals.
PMID: 24745848 - Reports of 5 individuals with a diagnosis of PLAn however only 2 of those individuals had iron deposition on their brain MRI.
PMID: 27516098 - 4 of the 8 reported individuals presented with iron deposition.Created: 4 Dec 2024, 3:35 a.m. | Last Modified: 4 Dec 2024, 3:35 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PLA2G6-associated neurodegeneration MONDO:0017998
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- PLA2G6-associated neurodegeneration (PLAN)
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- None
- 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
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PLA2G6 was added gene: PLA2G6 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration (PLAN)