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Differences of Sex Development
Gene: LEP

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Hypogonadotropic hypogonadism is a feature of congenital leptin deficiency

PMID: 31483094: 3 variants/ patients reported with congenital leptin deficiency. Variants not present in gnomad.
Created: 15 Jul 2020, 6:03 a.m. | Last Modified: 15 Jul 2020, 6:03 a.m.

Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Jul 2020, 6:03 a.m.
Last Modified: 15 Jul 2020, 6:03 a.m.
Panel version: 0.92

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Obesity, morbid, due to leptin deficiency (MIM#614962)

OMIM

Clinvar variants

Variants in LEP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Jul 2020, 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).

15 Jul 2020, 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 (MIM#614962) to Obesity, morbid, due to leptin deficiency (MIM#614962)

15 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LEP were set to

15 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LEP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEP was added gene: LEP was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LEP was set to Unknown