Bardet Biedl syndrome
Gene: CEP290

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

1 review

Tom Cullup (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Leitch et al 2008 PMID: 20177705
Valente et al 2006 PMID: 16682970
den Hollander et al 2006 PMID: 16909394
Baala et al 2007 PMID: 17160906
Sayer et al 2006 PMID: 16682973

Created: 15 Mar 2019, 1:24 p.m.

Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS

Phenotypes

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

OMIM

610142

Clinvar variants

Variants in CEP290

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Mar 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CEP290 was added gene: CEP290 was added to Bardet Biedl syndrome. Sources: NHS GMS Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 20177705; 17160906; 16682973; 16682970; 16909394 Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134