Retinal disorders
Gene: CEP78
CEP78 (centrosomal protein 78)
EnsemblGeneIds (GRCh38): ENSG00000148019
EnsemblGeneIds (GRCh37): ENSG00000148019
OMIM: 617110, Gene2Phenotype
CEP78 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000148019
EnsemblGeneIds (GRCh37): ENSG00000148019
OMIM: 617110, Gene2Phenotype
CEP78 is in 2 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: More than 3 cases reported. Evidence rated Strong by the ClinGen Hearing Loss Working Group.Created: 6 Jul 2017, 8:56 a.m.
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 6 Jul 2017, 8:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-Rod Dystrophy and Hearing Loss; CRDHL; OMIM: 617236
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Cone-Rod Dystrophy and Hearing Loss
- CRDHL
- OMIM: 617236
- OMIM
- 617110
- Clinvar variants
- Variants in CEP78
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CEP78. Rating Changed from Green List (high evidence) to Green List (high evidence)
6 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CEP78 was added to Posterior segment abnormalitiespanel. Sources: Other
6 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CEP78 was created by ellenmcdonagh