LEPR

leptin receptor
OMIM: 601007, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green LEPR in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.55	1 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 1.4852	1 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 Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.226	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Obesity due to leptin receptor gene deficiency, MONDO:0013992 Tags treatable clinical trial
Green LEPR in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	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 1.32	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.148	2 reviews	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
Green LEPR in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.137	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Obesity due to leptin receptor gene deficiency, MONDO:0013992 Tags treatable clinical trial