Severe early-onset obesity

Gene: CEP290

Green List (high evidence)

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene cause a range of ciliopathies. The association with BBS is rare.
Created: 8 Oct 2020, 4:05 a.m. | Last Modified: 8 Oct 2020, 4:05 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 14, MIM# 615991

Publications

History Filter Activity

4 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep290 has been classified as Green List (High Evidence).

4 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991 to Bardet-Biedl syndrome 14, MIM# 615991

4 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep290 has been classified as Green List (High Evidence).

31 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP290 was added gene: CEP290 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 18327255; 23943788 Phenotypes for gene: CEP290 were set to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991