Monogenic hearing loss
Gene: CEP250EnsemblGeneIds (GRCh38): ENSG00000126001
EnsemblGeneIds (GRCh37): ENSG00000126001
OMIM: 609689, Gene2Phenotype
CEP250 is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.
Panel Version: 2.221
Ivone Leong (Genomics England Curator)
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made considered for Green status at the next review.
This gene is also on the Retinal disorders panel (v2.58) with the following review from Zornitza Stark:
"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.
Zornitza Stark (Australian Genomics), 10 Oct 2020"
Sources: LiteratureCreated: 6 Jan 2021, 2:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
- OMIM
- 609689
- Clinvar variants
- Variants in CEP250
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: CEP250.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to CEP250. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cep250 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CEP250 was added gene: CEP250 was added to Hearing loss. Sources: Literature for-review tags were added to gene: CEP250. Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP250 were set to 24780881; 29718797; 30459346 Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 Review for gene: CEP250 was set to GREEN