Bardet-Biedl Syndrome

Gene: CEP290

Red List (low evidence)

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 20 panels

2 reviews

Caroline Wright (Genomics England Curator)

Comment on list classification: Only 1 BBS patient published with a variant in this gene
17 Dec 2015, 1:33 p.m.

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mutations in this gene more commonly cause other ciliopathies, only a single case of a mutation in a BBS patient reported.
14 Oct 2015, 12:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
610189; 611134; 611755; 610188

Publications

History Filter Activity

1 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CEP290 were set to Bardet‐Biedl syndrome 14; 610189; 611134; 611755; 610188

1 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CEP290 were set to PMID: 20690115; 18327255

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CEP290 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CEP290 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CEP290 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services