Childhood onset dystonia, chorea or related movement disorder
Gene: PLA2G6

PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Neurodegeneration with brain iron accumulation 2B 610217
Parkinson disease 14, autosomal recessive 612953
Infantile neuroaxonal dystrophy 1 256600
PLA2G6-associated neurodegeneration

OMIM

603604

Clinvar variants

Variants in PLA2G6

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to PLA2G6. Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 14, autosomal recessive 612953; Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; PLA2G6-associated neurodegeneration for gene: PLA2G6 Publications for gene PLA2G6 were changed from to 16783378; 18799783; 18570303