Hypogonadotropic hypogonadism idiopathic

Gene: LEP

Amber List (moderate evidence)

LEP (leptin)
EnsemblGeneIds (GRCh38): ENSG00000174697
EnsemblGeneIds (GRCh37): ENSG00000174697
OMIM: 164160, Gene2Phenotype
LEP 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, 1:20 p.m. | Last Modified: 29 Mar 2021, 1:20 p.m.
Panel Version: 1.35

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hypogonadotropic hypogonadism is a feature of congenital leptin deficiency.
Sources: Expert list
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Obesity, morbid, due to leptin deficiency, OMIM:614962
Tags
Q2_21_rating
OMIM
164160
Clinvar variants
Variants in LEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

29 Mar 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: LEP.

29 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency (MIM#614962) to Obesity, morbid, due to leptin deficiency, OMIM:614962

15 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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