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Inborn errors of metabolism

Gene: PLA2G6

Green List (high evidence)

PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). 
Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 2:01 p.m.
Panel Version: 1.456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PLA2G6. Source London North GLH was added to PLA2G6.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PLA2G6 was added gene: PLA2G6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 27604308; 18570303; 16783378; 18799783 Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1