This Panel is marked as Internal
ClinGen Gene Validity Curations
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
1 review
Ellen McDonagh (Genomics England Curator)
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: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Expert Review Green
- 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
6 Jul 2017, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CEP78 were set to Cone-Rod Dystrophy and Hearing Loss; CRDHL; OMIM:617236
6 Jul 2017, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CEP78 were set to 28005958; 27588451; 27588452; 27627988
23 Jun 2017, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CEP78 were set to 28005958;27588451;27588452;27627988;
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CEP78 was created by ellenmcdonagh
22 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CEP78 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen,Expert Review Green