1. Panels
  2. Deafness_Isolated
  3. CEP78
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: CEP78

Green List (high evidence)
CEP78 (centrosomal protein 78)
EnsemblGeneIds (GRCh38): ENSG00000148019
EnsemblGeneIds (GRCh37): ENSG00000148019
OMIM: 617110, Gene2Phenotype
CEP78 is in 8 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Classified as 'Strong'by ClinGen hearing loss expert panel. Atypical Usher phenotype.
Sources: Expert list
Created: 31 Dec 2019, 12:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy and hearing loss

Publications

Created: 31 Dec 2019, 12:20 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Cone-rod dystrophy and hearing loss, MIM#617236
OMIM
617110
Clinvar variants
Variants in CEP78
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: cep78 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP78 was added gene: CEP78 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP78 were set to 27588452; 28005958; 27588451; 27627988 Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, MIM#617236