Usher Syndrome
Gene: CEP250
CEP250 (centrosomal protein 250)
EnsemblGeneIds (GRCh38): ENSG00000126001
EnsemblGeneIds (GRCh37): ENSG00000126001
OMIM: 609689, Gene2Phenotype
CEP250 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000126001
EnsemblGeneIds (GRCh37): ENSG00000126001
OMIM: 609689, Gene2Phenotype
CEP250 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. Three unrelated families reported.Created: 3 Oct 2020, 4:27 a.m. | Last Modified: 3 Oct 2020, 4:27 a.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy and hearing loss 2, MIM# 618358
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Usher-like disease
- Cone-rod dystrophy and hearing loss 2, 618358
- OMIM
- 609689
- Clinvar variants
- Variants in CEP250
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep250 has been classified as Green List (High Evidence).
3 Oct 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CEP250 were set to
14 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CEP250 was added gene: CEP250 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP250 were set to Usher-like disease; Cone-rod dystrophy and hearing loss 2, 618358