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Deafness_IsolatedAndComplex

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

31 Dec 2019, 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).

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss, MIM#617236

31 Dec 2019, 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).

31 Dec 2019, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

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