LEP

leptin
OMIM: 164160, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LEP 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 deficiency (MIM#614962)

Green LEP in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity, morbid, due to leptin deficiency (MIM#614962)

Green LEP in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, morbid, due to leptin deficiency, 614962 (3)

Green LEP 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 deficiency, OMIM:614962

Green LEP in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Obesity, morbid, due to leptin deficiency, 614962 (3)

Green LEP in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Obesity, morbid, due to leptin deficiency (MIM#614962)
Tags
  • treatable
  • endocrine