Congenital nystagmus
Gene: CEP290
CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants in this gene are associated with a range of ciliopathies, including LCA. Multiple families reported.Created: 24 Oct 2021, 6:23 a.m. | Last Modified: 24 Oct 2021, 6:23 a.m.
Panel Version: 0.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 10, MIM# 611755
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leber congenital amaurosis 10, MIM# 611755
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Congenital nystagmus
- Intellectual disability syndromic and non-syndromic
- Bardet Biedl syndrome
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Severe early-onset obesity
- Cerebral Palsy
History Filter Activity
24 Oct 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep290 has been classified as Green List (High Evidence).
24 Oct 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CEP290 were changed from to Leber congenital amaurosis 10, MIM# 611755
24 Oct 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CEP290 were set to
24 Oct 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
6 Oct 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CEP290 was added gene: CEP290 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CEP290 was set to