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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. PLA2G5
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PLA2G5

Green List (high evidence)
PLA2G5 (phospholipase A2 group V)
EnsemblGeneIds (GRCh38): ENSG00000127472
EnsemblGeneIds (GRCh37): ENSG00000127472
OMIM: 601192, Gene2Phenotype
PLA2G5 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Retinal disorder which does not impair vision but produces a distinctive retinal appearance. At least 4 unrelated families reported.
Created: 25 Apr 2022, 5:32 a.m. | Last Modified: 25 Apr 2022, 5:32 a.m.
Panel Version: 0.118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Fleck retina, familial benign], MIM# 228980

Publications

Created: 25 Apr 2022, 5:32 a.m.
Last Modified: 25 Apr 2022, 5:32 a.m.
Panel version: 0.118

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Have features of RP
Created: 9 Jan 2020, 11:18 p.m. | Last Modified: 9 Jan 2020, 11:18 p.m.
Panel Version: 0.2
Created: 9 Jan 2020, 11:18 p.m.
Last Modified: 9 Jan 2020, 11:18 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • [Fleck retina, familial benign], MIM# 228980
OMIM
601192
Clinvar variants
Variants in PLA2G5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLA2G5 were changed from Fleck retina, familial benign to [Fleck retina, familial benign], MIM# 228980

25 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLA2G5 were set to

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pla2g5 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pla2g5 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLA2G5 was added gene: PLA2G5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red Mode of inheritance for gene: PLA2G5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G5 were set to Fleck retina, familial benign