Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: EXOSC2

Amber List (moderate evidence)

EXOSC2 (exosome component 2)
EnsemblGeneIds (GRCh38): ENSG00000130713
EnsemblGeneIds (GRCh37): ENSG00000130713
OMIM: 602238, Gene2Phenotype
EXOSC2 is in 1 panel

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

Details

Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber
OMIM
602238
Clinvar variants
Variants in EXOSC2
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: EXOSC2 was added gene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: EXOSC2 was set to