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 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders;
26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents;
25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island;
24611737 - uncertain heterozygous variant reported;24319006 - two homozygous cases reported (Pakistan);
23275530 - multiple homozygous cases reported from different ethnicities
Created: 16 Mar 2021, 4:48 p.m. | Last Modified: 16 Mar 2021, 4:48 p.m.
Panel Version: 2.17

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

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

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
OMIM
601007
Clinvar variants
Variants in LEPR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency, 614963; Congenital Obesity to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963

16 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to LEPR. Added phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 for gene: LEPR

25 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

18 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities

18 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island;

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

18 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

LEPR was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene LEPR was set to BIALLELIC, autosomal or pseudoautosomal

18 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

LEPR was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

LEPR was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen