Hypogonadotropic hypogonadism (GMS)
Gene: LEPRThe 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, 1:22 p.m. | Last Modified: 29 Mar 2021, 1:22 p.m.
Panel Version: 1.37
>5 families reported. Hypogonadotropic hypogonadism is a feature of the phenotype.
Sources: Expert listCreated: 15 Jul 2020, 7:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: LEPR.
Source Expert Review Green was added to LEPR. Source NHS GMS was added to LEPR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: LEPR.
Gene: lepr has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency (MIM#614963) to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
gene: LEPR was added gene: LEPR was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEPR were set to 17229951; 29545012 Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Review for gene: LEPR was set to GREEN gene: LEPR was marked as current diagnostic