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  3. LEPR
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Severe early-onset obesity

Gene: LEPR

Green List (high evidence)
LEPR (leptin receptor)
EnsemblGeneIds (GRCh38): ENSG00000116678
EnsemblGeneIds (GRCh37): ENSG00000116678
OMIM: 601007, Gene2Phenotype
LEPR is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. More than 5 families reported.
Created: 1 Nov 2021, 3:45 a.m. | Last Modified: 1 Nov 2021, 3:45 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity, morbid, due to leptin receptor deficiency (MIM#614963)

Publications

Created: 1 Nov 2021, 3:45 a.m.
Last Modified: 1 Nov 2021, 3:45 a.m.
Panel version: 0.24

Details

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

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: LEPR. Tag clinical trial tag was added to gene: LEPR.

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lepr 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: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581

31 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEPR was added gene: LEPR was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581 Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963