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  3. CEP164
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Bardet Biedl syndrome

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.
Sources: Expert list
Created: 22 Jan 2020, 11:37 p.m. | Last Modified: 27 Jun 2021, 5:36 a.m.
Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2020, 11:37 p.m.
Last Modified: 27 Jun 2021, 5:36 a.m.
Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome
OMIM
614848
Clinvar variants
Variants in CEP164
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP164 were changed from Nephronophthisis 15, MIM# 614845 to Bardet-Biedl syndrome

27 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP164 were set to

27 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep164 has been classified as Green List (High Evidence).

22 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep164 has been classified as Amber List (Moderate Evidence).

22 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep164 has been classified as Amber List (Moderate Evidence).

22 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP164 was added gene: CEP164 was added to Bardet Biedl syndrome. Sources: Expert list Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to Nephronophthisis 15, MIM# 614845 Review for gene: CEP164 was set to AMBER gene: CEP164 was marked as current diagnostic