DDG2P
Gene: PLA2G6

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:10 p.m.

Panel Version: 3.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:10 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for INFANTILE NEUROAXONAL DYSTROPHY 1; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1.
Created: 29 Jan 2019, 12:14 p.m.

Original DDG2P rating: both DD and IF (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600

OMIM

603604

Clinvar variants

Variants in PLA2G6

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PLA2G6 were changed from INFANTILE NEUROAXONAL DYSTROPHY 1 256600; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217 to INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600

12 Jul 2019, Gel status: 3