Hypogonadotropic hypogonadism idiopathic

Gene: LEPR

Amber List (moderate evidence)

LEPR (leptin receptor)
EnsemblGeneIds (GRCh38): ENSG00000116678
EnsemblGeneIds (GRCh37): ENSG00000116678
OMIM: 601007, Gene2Phenotype
LEPR is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

>5 families reported. Hypogonadotropic hypogonadism is a feature of the phenotype.
Sources: Expert list
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Tags
Q2_21_rating
OMIM
601007
Clinvar variants
Variants in LEPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: LEPR.

29 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lepr has been classified as Amber List (Moderate Evidence).

29 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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