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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Affected individuals typically have retinal dystrophy combined with sensorineural hearing impairment, classified as atypical Usher syndrome (PMID: 35240912).

Variable age of onset for visual or hearing symptoms, ranging from first to fourth or fifth decades of life (OMIM).
Created: 8 Jan 2025, 3:32 a.m. | Last Modified: 8 Jan 2025, 3:32 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy and hearing loss MIM#617236

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

16 Jan 2025, 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).

16 Jan 2025, 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, 617236 (3), Autosomal recessive to Cone-rod dystrophy and hearing loss, MIM#617236

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP78 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP78 was added gene: CEP78 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive