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  3. CEP19
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Severe early-onset obesity

Gene: CEP19

Amber List (moderate evidence)
CEP19 (centrosomal protein 19)
EnsemblGeneIds (GRCh38): ENSG00000174007
EnsemblGeneIds (GRCh37): ENSG00000174007
OMIM: 615586, Gene2Phenotype
CEP19 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Supportive mouse model.
Created: 31 Oct 2021, 9:49 p.m. | Last Modified: 31 Oct 2021, 9:49 p.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Morbid obesity and spermatogenic failure, MIM# 615703

Created: 31 Oct 2021, 9:49 p.m.
Last Modified: 31 Oct 2021, 9:49 p.m.
Panel version: 0.20

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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 list
Created: 24 May 2020, 1:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet Biedl syndrome

Publications

Created: 24 May 2020, 1:56 a.m.

Panel version: Imported from Bardet Biedl syndrome panel version 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Morbid obesity and spermatogenic failure, OMIM:615703
  • Bardet Biedl syndrome
OMIM
615586
Clinvar variants
Variants in CEP19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep19 has been classified as Amber List (Moderate Evidence).

31 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, OMIM:615703 to Morbid obesity and spermatogenic failure, OMIM:615703; Bardet Biedl syndrome

31 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep19 has been classified as Amber List (Moderate Evidence).

31 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP19 was added gene: CEP19 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP19 were set to 24268657; 29127258 Phenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure, OMIM:615703