Severe early-onset obesity
Gene: CEP19
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
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
Gene: cep19 has been classified as Amber List (Moderate Evidence).
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
Gene: cep19 has been classified as Amber List (Moderate Evidence).
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