Retinitis pigmentosa_Autosomal Recessive/X-linked
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Senior-Loken syndrome 6, 610189
- Meckel syndrome 4, 611134
- Leber congenital amaurosis 10, 611755
- Joubert syndrome 5, 610188
- Bardet-Biedl syndrome 14, 209900
- 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
23 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 Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Meckel syndrome 4, 611134; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 209900