Severe early-onset obesity
Gene: CPE
Several families reported, obesity is the main featureCreated: 2 Nov 2021, 10:21 p.m. | Last Modified: 2 Nov 2021, 10:21 p.m.
Panel Version: 0.59
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BDV syndrome 619326
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CPE were changed from BDV syndrome, MIM# 619326 to BDV syndrome, MIM# 619326; Intellectual developmental disorder and hypogonadotropic hypogonadism
Gene: cpe has been classified as Green List (High Evidence).
Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 to BDV syndrome, MIM# 619326
Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Gene: cpe has been classified as Green List (High Evidence).
gene: CPE was added gene: CPE was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766 Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326