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  2. Hypogonadotropic hypogonadism (GMS)
  3. LEPR
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Hypogonadotropic hypogonadism (GMS)

Gene: LEPR

Green List (high evidence)
LEPR (leptin receptor)
EnsemblGeneIds (GRCh38): ENSG00000116678
EnsemblGeneIds (GRCh37): ENSG00000116678
OMIM: 601007, Gene2Phenotype
LEPR is in 2 panels

3 reviews

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
Created: 31 Jan 2023, 5:03 p.m.
Last Modified: 31 Jan 2023, 5:03 p.m.
Panel version: 2.5

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 29 Mar 2021, 1:22 p.m. | Last Modified: 29 Mar 2021, 1:22 p.m.
Panel Version: 1.37
Created: 29 Mar 2021, 1:22 p.m.
Last Modified: 29 Mar 2021, 1:22 p.m.
Panel version: 1.37

Zornitza Stark (Australian Genomics)

Green List (high evidence)

>5 families reported. Hypogonadotropic hypogonadism is a feature of the phenotype.
Sources: Expert list
Created: 15 Jul 2020, 7:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jul 2020, 7:53 a.m.

Panel version: 1.8

Details

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

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q2_21_rating was removed from gene: LEPR.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to LEPR. Source NHS GMS was added to LEPR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: LEPR.

29 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lepr has been classified as Amber List (Moderate Evidence).

29 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LEPR was added gene: LEPR was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEPR were set to 17229951; 29545012 Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Review for gene: LEPR was set to GREEN gene: LEPR was marked as current diagnostic