Ataxia - paediatric
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)
Variants in this gene cause a range of ciliopathies.Created: 27 Jun 2021, 5:52 a.m. | Last Modified: 27 Jun 2021, 5:52 a.m.
Panel Version: 0.8142
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Joubert syndrome 5
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- None
- 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
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CEP290 was added gene: CEP290 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome 5