Structural basal ganglia disorders

Gene: PLA2G6

Green List (high evidence)

PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a both DD and IF G2P for Infantile neuroaxonal dystrophy 1 256600 (Neurodegeneration with brain iron accumulation-2A) and Neurodegeneration with brain iron accumulation 2B 610217.
At least 7 variants reported in Infantile neuroaxonal dystrophy 1 256600 (Neurodegeneration with brain iron accumulation-2A), at least 3 variants reported in Neurodegeneration with brain iron accumulation 2B 610217 and at least 6 variants reported in Parkinson disease 14, autosomal recessive 612953.
Created: 6 Mar 2017, 4:50 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PLA2G6 were set to Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953

6 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PLA2G6 were set to 16783378; 18799783; 18570303

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

PLA2G6 was added to Structural basal ganglia disorderspanel. Sources: Literature

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

PLA2G6 was created by Manju