Prepair 500+
Gene: CEP290
Is the phenotype(s) severe and onset <18yo? Yes. Variants in this gene cause a range of ciliopathies that ClinGen lumps together as CEP290-related ciliopathy MONDO:0100451. At the most severe this condition can be lethal in utero or perinatal lethal and surviving individuals can have severe multisystem features (OMIM, PMIDs: 17345604, 16909394, 24807808, 16682970, 16682973, 27434533)
No clear genotype-phenotype and disease involvement/severity is likely dependent on residual activity. (PMID: 20690115, 32208788)Created: 25 Jul 2024, 11:53 p.m. | Last Modified: 25 Jul 2024, 11:53 p.m.
Panel Version: 1.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEP290-related ciliopathy MONDO:0100451; 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
Gene: cep290 has been classified as Green List (High Evidence).
Phenotypes for gene: CEP290 were changed from Joubert syndrome 5, 610188 (3) to CEP290-related ciliopathy MONDO:0100451; 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 for gene: CEP290 were set to
gene: CEP290 was added gene: CEP290 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)