Research panel - Severe Paediatric Disorders
Gene: CEP290

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CEP290; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Bardet-Biedl syndrome 14, 615991 (3) | Joubert syndrome 5, 610188 (3) | Leber congenital amaurosis 10, 611755 (3) | Meckel syndrome 4, 611134 (3) | Senior-Loken syndrome 6, 610189 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | ND | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

610142

Clinvar variants

Variants in CEP290

Penetrance

None

Publications

30847515

Panels with this gene