Severe early-onset obesity
Gene: LEP
LEP (leptin)
EnsemblGeneIds (GRCh38): ENSG00000174697
EnsemblGeneIds (GRCh37): ENSG00000174697
OMIM: 164160, Gene2Phenotype
LEP is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000174697
EnsemblGeneIds (GRCh37): ENSG00000174697
OMIM: 164160, Gene2Phenotype
LEP is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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