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Hearing loss

Gene: CEP78

Green List (high evidence)

CEP78 (centrosomal protein 78)
EnsemblGeneIds (GRCh38): ENSG00000148019
EnsemblGeneIds (GRCh37): ENSG00000148019
OMIM: 617110, Gene2Phenotype
CEP78 is in 3 panels

1 review

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, 8:51 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, 8:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-Rod Dystrophy and Hearing Loss; CRDHL

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

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

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 Congenital hearing impairment (profound/severe)panel. Sources: Other

6 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CEP78 was created by ellenmcdonagh