Bardet Biedl syndrome
Gene: CEP19
CEP19 (centrosomal protein 19)
EnsemblGeneIds (GRCh38): ENSG00000174007
EnsemblGeneIds (GRCh37): ENSG00000174007
OMIM: 615586, Gene2Phenotype
CEP19 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000174007
EnsemblGeneIds (GRCh37): ENSG00000174007
OMIM: 615586, Gene2Phenotype
CEP19 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome.
Sources: Expert listCreated: 24 May 2020, 1:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Bardet Biedl syndrome
- OMIM
- 615586
- Clinvar variants
- Variants in CEP19
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 May 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep19 has been classified as Red List (Low Evidence).
24 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CEP19 was added gene: CEP19 was added to Bardet Biedl syndrome. Sources: Expert list Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP19 were set to 29127258; 24268657 Phenotypes for gene: CEP19 were set to Bardet Biedl syndrome Review for gene: CEP19 was set to RED