Severe early-onset obesity
Gene: CEP19
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Comment on list classification: One family + animal model. Ciliary proteinCreated: 19 Aug 2016, 10:57 a.m.
Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, 615703 to Morbid obesity and spermatogenic failure, OMIM:615703
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: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Phenotypes for CEP19 were set to Morbid obesity and spermatogenic failure, 615703
Mode of inheritance for CEP19 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Publications for CEP19 were set to 24268657
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CEP19 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen