Hypogonadotropic hypogonadism (GMS)
Gene: LEPThe rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 29 Mar 2021, 1:20 p.m. | Last Modified: 29 Mar 2021, 1:20 p.m.
Panel Version: 1.35
Hypogonadotropic hypogonadism is a feature of congenital leptin deficiency.
Sources: Expert listCreated: 15 Jul 2020, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, morbid, due to leptin deficiency (MIM#614962)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: LEP.
Source Expert Review Green was added to LEP. Source NHS GMS was added to LEP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: lep has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: LEP.
Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency (MIM#614962) to Obesity, morbid, due to leptin deficiency, OMIM:614962
gene: LEP was added gene: LEP was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEP were set to 26567097; 31483094 Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency (MIM#614962) Review for gene: LEP was set to GREEN gene: LEP was marked as current diagnostic