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  3. CEP290
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Structural eye disease

Gene: CEP290

Green List (high 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: 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: 0.38

History Filter Activity

17 Apr 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CEP290 were changed from Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991 to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CEP290. Source Expert Review Green was added to CEP290. Added phenotypes Joubert syndrome 5, 610188; Leber congenital amaurosis 10, 611755; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991; Senior-Loken syndrome 6, 610189 for gene: CEP290 Publications for gene CEP290 were changed from to 30055837, 22355252 Rating Changed from Red List (low evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CEP290 was added gene: CEP290 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome 5