Retinal disorders
Gene: CEP290EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
4 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Tom Cullup (Great Ormond Street Hospital)
Note that intronic variant NM_025114.3(CEP290):c.2991+1655A>G should be included in analysis.Created: 18 Jul 2019, 9:01 a.m. | Last Modified: 18 Jul 2019, 9:01 a.m.
Panel Version: 1.145
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 10; LCA10
Publications
- PMID: 17345604
Variants in this GENE are reported as part of current diagnostic practice
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome type 5 (JBTS5); Senior-Loken syndrome type 6 (SLSN6); Leber congenital amaurosis type 10 (LCA10); Meckel syndrome type 4 (MKS4); Bardet-Biedl syndrome type 14 (BBS14)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Achromatopsia, Cone, and Cone-rod Dystrophy
- Bardet-Biedl syndrome 14 (AR)
- Joubert syndrome 5 (AR)
- Leber congenital amaurosis 10 (AR)
- Meckel syndrome type 4 (AR)
- Senior-Loken syndrome 6 (AR)
- Leber congenital amaurosis type 10
- Joubert syndrome 5, 610188
- Senior-Loken syndrome 6, 610189
- Leber congenital amaurosis 10, 611755
- Meckel syndrome 4, 611134
- Bardet-Biedl syndrome 14, 209900
- Leber Congenital Amaurosis
- Eye Disorders
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Severe early-onset obesity
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CEP290 were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CEP290. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CEP290 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green