1. Panels
  2. Newborns main panel
  3. LEPR
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: LEPR

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness

Additional Information: Most pathogenic variants occur in the FNIII and CRHII domains, none found in in the intracellular domain (PMID: 30560226)
Created: 1 Nov 2024, 11:26 a.m. | Last Modified: 1 Nov 2024, 11:26 a.m.
Panel Version: 0.469
Created: 1 Nov 2024, 11:26 a.m.
Last Modified: 1 Nov 2024, 11:26 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 25751111 - 12 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Most pathogenic variants occur in the FNIII and CRHII domains, none found in in the intracellular domain (PMID: 30560226)
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leptin receptor deficiency
Tags
special_consideration
OMIM
601007
Clinvar variants
Variants in LEPR
Penetrance
None
Panels with this gene

History Filter Activity

1 Nov 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: LEPR.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Leptin receptor deficiency for gene: LEPR

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LEPR. Added phenotypes Leptin receptor deficiency for gene: LEPR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LEPR. Added phenotypes Leptin receptor deficiency for gene: LEPR Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: LEPR was added gene: LEPR was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEPR were set to Leptin receptor deficiency