Severe early-onset obesity

Gene: LEP

Green List (high evidence)

LEP (leptin)
EnsemblGeneIds (GRCh38): ENSG00000174697
EnsemblGeneIds (GRCh37): ENSG00000174697
OMIM: 164160, Gene2Phenotype
LEP is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. More than 5 unrelated families and a mouse model.
Created: 1 Nov 2021, 3:43 a.m. | Last Modified: 1 Nov 2021, 3:43 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity, morbid, due to leptin deficiency, MIM# 614962

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lep has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LEP were set to

31 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEP was added gene: LEP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, OMIM:614962