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  3. CEP164
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Syndromic Retinopathy

Gene: CEP164

Green List (high evidence)
CEP164 (centrosomal protein 164)
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Created: 27 Jun 2021, 5:39 a.m. | Last Modified: 27 Jun 2021, 5:39 a.m.
Panel Version: 0.8139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome

Publications

Created: 27 Jun 2021, 5:39 a.m.
Last Modified: 27 Jun 2021, 5:39 a.m.
Panel version: Imported from Mendeliome panel version 0.8139

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
614848
Clinvar variants
Variants in CEP164
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: CEP164 was added gene: CEP164 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal