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  3. LEPR
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Differences of Sex Development

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported. Hypogonadotropic hypogonadism is a feature of the phenotype.
Created: 15 Jul 2020, 5:31 a.m. | Last Modified: 15 Jul 2020, 5:31 a.m.
Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Jul 2020, 5:31 a.m.
Last Modified: 15 Jul 2020, 5:31 a.m.
Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency (MIM#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.

15 Jul 2020, 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).

15 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LEPR were changed from to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)

15 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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