Ataxia - paediatric
Gene: PLA2G6EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is part of the phenotype.
Sources: Expert listCreated: 27 Dec 2019, 3:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 2B, MIM#610217
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Phenotypes
-
- Autosomal recessive Parkinson disease 14, 612953
- Parkinson disease 14 (#612953)
- Infantile neuroaxonal dystrophy 1 (#256600)
- Infantile neuroaxonal dystrophy 1, 256600
- Neurodegeneration with brain iron accumulation 2B (#610217)
- Neurodegeneration with brain iron accumulation 2B, 610217
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pla2g6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PLA2G6 was added gene: PLA2G6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Autosomal recessive Parkinson disease 14, 612953; Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B (#610217); Neurodegeneration with brain iron accumulation 2B, 610217