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  3. PLA2G6
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Fetal anomalies

Gene: PLA2G6

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLA2G6 gene rating from Amber to Red.
Created: 29 Apr 2019, 12:28 p.m.
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: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B and INFANTILE NEUROAXONAL DYSTROPHY 1.
Created: 6 Dec 2018, 10:07 a.m.
Created: 6 Dec 2018, 10:07 a.m.

Panel version: 0.222

History Filter Activity

29 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

12 Feb 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)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 for gene: PLA2G6

8 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 Fetal anomalies. Sources: Expert Review Green,PAGE 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