CEP290
HGNC:29021 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
1Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in CEP290 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| renal failure | — | 1 | 1 |
| retinal dystrophy | HP:0000556 | 1 | 1 |
| Leber congenital amaurosis | — | 1 | 1 |
Linked variants
Variants normalized to CEP290| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.5704G>T | c.5704G>T | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | 37 | 1 |
| Saudi Arabia | — | 12 | 1 |
| Not specified | — | 440 | 1 |
Supporting publications
4 records- 2019Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.Journal of medical genetics1 mentions
- 2012Molecular characterization of Joubert syndrome in Saudi Arabia.Human mutation1 mentions
- 2009Mutation survey of known LCA genes and loci in the Saudi Arabian population.Investigative ophthalmology & visual science1 mentions