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Severe Paediatric Disorders

Gene: CEP290

Green List (high evidence)

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 26 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

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
Panels with this gene