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Retinal disorders

Gene: CEP250

Amber List (moderate evidence)

CEP250 (centrosomal protein 250)
EnsemblGeneIds (GRCh38): ENSG00000126001
EnsemblGeneIds (GRCh37): ENSG00000126001
OMIM: 609689, Gene2Phenotype
CEP250 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
609689
Clinvar variants
Variants in CEP250
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: CEP250 was added gene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CEP250 was set to