Retinal disorders
Gene: PGK1

PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 13 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5

Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5

Details

Sources

NHS GMS
RetNet
Expert Review Amber

OMIM

311800

Clinvar variants

Variants in PGK1

Penetrance

None

Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PGK1 was added gene: PGK1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PGK1 was set to

Retinal disorders Gene: PGK1