LEPR

leptin receptor
OMIM: 601007, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LEPR in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review 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

Green LEPR in Mendeliome


Version 1.1891

review 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

Green LEPR in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency

Green LEPR in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Tags
  • treatable
  • clinical trial

Green LEPR in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Tags
  • treatable
  • clinical trial
  • endocrine