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Limb disorders

Gene: CEP290

No list

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 25 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:44 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 11 Jul 2016, 12:58 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Bardet-Biedl syndrome 14, 615991
  • Joubert syndrome 5, 610188
  • Leber congenital amaurosis 10
  • Meckel syndrome 4,611134
  • Senior-Loken syndrome 6,610189
  • Polydactyly
OMIM
610142
Clinvar variants
Variants in CEP290
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cep290 has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cep290 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to CEP290. Rating Changed from Green List (high evidence) to No List (delete)

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CEP290. Panel: Limb disorders Phenotypes for gene CEP290 were set to Bardet-Biedl syndrome 14, 615991, Joubert syndrome 5, 610188, Leber congenital amaurosis 10, Meckel syndrome 4,611134, Senior-Loken syndrome 6,610189, Polydactyly

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CEP290 were set to Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Leber congenital amaurosis 10; Meckel syndrome 4,611134; Senior-Loken syndrome 6,610189

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to CEP290. Panel: Limb disorders UKGTN was added to CEP290. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to CEP290. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to CEP290. Panel: Limb disorders Expert list was added to CEP290. Panel: Limb disorders Emory Genetics Laboratory was added to CEP290. Panel: Limb disorders Model of inheritance for gene CEP290 was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to CEP290. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP290 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CEP290 was created by Ellen McDonagh