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  3. CEP290
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Glaucoma (developmental)

Gene: CEP290

Red List (low evidence)
CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Brooks: 2 families with coloboma; Yzer 1 family
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome 4; Leber congenital amaurosis 10; ?Bardet-Biedl syndrome 14; 610188; 610189; 611134; 611755; 615991

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Brooks: 2 families with coloboma; Yzer 1 family
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 5, 610188; Senior-Loken syndrome 6, 610189; Meckel syndrome 4, 611134; Leber congenital amaurosis 10, 611755; ?Bardet-Biedl syndrome 14, 615991

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.38

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CEP290 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory