Cerebral Palsy
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
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic variants (1 frameshift insertion, 1 splice) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 28 May 2024, 5:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 5, MIM#610188
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Joubert syndrome 5, MIM#610188
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
28 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep290 has been classified as Red List (Low Evidence).
28 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep290 has been classified as Red List (Low Evidence).
28 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CEP290 was added gene: CEP290 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to PMID: 38693247 Phenotypes for gene: CEP290 were set to Joubert syndrome 5, MIM#610188 Review for gene: CEP290 was set to RED