1. Panels
  2. Hypogonadotropic hypogonadism (GMS)
  3. LEP
STRs in panel
Prev Next
Regions in panel
Prev Next

Hypogonadotropic hypogonadism (GMS)

Gene: LEP

Green List (high evidence)
LEP (leptin)
EnsemblGeneIds (GRCh38): ENSG00000174697
EnsemblGeneIds (GRCh37): ENSG00000174697
OMIM: 164160, Gene2Phenotype
LEP is in 2 panels

3 reviews

Catherine Snow (Genomics England)

The 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
Created: 31 Jan 2023, 5:03 p.m.
Last Modified: 31 Jan 2023, 5:03 p.m.
Panel version: 2.5

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
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

Created: 15 Jul 2020, 8:08 a.m.

Panel version: 1.8

Details

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

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q2_21_rating was removed from gene: LEP.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

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)

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