Severe early-onset obesity
Gene: CEP19

CEP19 (centrosomal protein 19)
EnsemblGeneIds (GRCh38): ENSG00000174007
EnsemblGeneIds (GRCh37): ENSG00000174007
OMIM: 615586, Gene2Phenotype
CEP19 is in 2 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

CEP19 is associated with a phenotype on OMIM but not on Gene2Phenotype. PMID: 29127258 is a second unrelated case reporting on a Pakistani family with BBS where affected individuals in the family are obese. There are now 2 published cases with different variants and an animal model. Therefore, there is enough evidence to support a gene-disease association and CEP19 should be promoted to green status.
Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.

Panel Version: 1.22

Publications

29127258

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

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

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red as there is only one large family study (homozygous for rs587777230 R82X substitution) and mouse model evidence currently from one publication - PMID:24268657 (literature search carried out).
Created: 19 Oct 2016, 7:07 a.m.

Created: 19 Oct 2016, 7:06 a.m.

Panel version: 0.187

Ayesha Ahmed (GEL)

Comment on list classification: One family + animal model. Ciliary protein
Created: 19 Aug 2016, 10:57 a.m.

Created: 19 Aug 2016, 10:57 a.m.

Panel version: 0.92

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Morbid obesity and spermatogenic failure, OMIM:615703

OMIM

615586

Clinvar variants

Variants in CEP19

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Aug 2019, Gel status: 3

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CEP19. Source Expert list was added to CEP19. Publications for gene CEP19 were changed from 24268657 to 29127258; 24268657 Rating Changed from Red List (low evidence) to Green List (high evidence)

25 Oct 2016, Gel status: 1