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Prepair 1000+

Gene: LEP

Green List (high evidence)

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Leptin deficiency or dysfunction (LEPD) is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction.

Established gene-disease association. Onset is in infancy/early childhood.
Created: 29 Jan 2025, 5:48 a.m. | Last Modified: 29 Jan 2025, 5:48 a.m.
Panel Version: 1.1367

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
  • Mackenzie's Mission
Phenotypes
  • Obesity, morbid, due to leptin deficiency, MIM#614962
OMIM
164160
Clinvar variants
Variants in LEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, 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).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962 (3) to Obesity, morbid, due to leptin deficiency, MIM#614962

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LEP were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 614962 (3)