POMC

proopiomelanocortin
OMIM: 176830, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green POMC in Mendeliome Version 1.4851	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Green POMC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Green POMC 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 Victorian Clinical Genetics Services Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Red POMC in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Proopiomelanocortin deficiency
Green POMC in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.120	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Green POMC 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, early-onset, susceptibility to}, OMIM:601665 Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Green POMC in Prepair 1000+ Level 2: Screening Version 2.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734
Green POMC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.148	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Green POMC in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 0.76	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734