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DDG2P

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

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.

History Filter Activity

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to PLA2G6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to PLA2G6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 256600 for gene: PLA2G6

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PLA2G6 was added gene: PLA2G6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217