Obesity due to pro-opiomelanocortin deficiency

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Name:	Obesity due to pro-opiomelanocortin deficiency
Description:	Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
ORPHAcode:	71526
Synonyms:	POMC deficiency
XREF(s):	Orphanet OMIM ICD-10 OMIM
Analyte(s):	POMC
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Early-onset severe obesity
• Obesitas, early onset (gene panel)
• Obesity (gene panel)

Related Laboratories

• Centre de Génétique Humaine - CHU Sart-Tilman
• Centrum Medische Genetica - UZ Antwerpen
• Centrum Medische Genetica - UZ Brussel VUB

Related Analytes

• POMC

Related Gene Panels

• Early-onset severe obesity (44 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADCY3	100.00	0	only for coding exons and intronic borders +/-14pb
  ALMS1	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS1	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS2	100.00	0	only for coding exons and intronic borders +/-14pb
  ARL6	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS4	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS5	100.00	0	only for coding exons and intronic borders +/-14pb
  MKKS	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS7	100.00	0	only for coding exons and intronic borders +/-14pb
  TTC8	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS9	99.99	0	only for coding exons and intronic borders +/-14pb
  BBS10	100.00	0	only for coding exons and intronic borders +/-14pb
  TRIM32	100.00	0	only for coding exons and intronic borders +/-14pb
  BBS12	100.00	0	only for coding exons and intronic borders +/-14pb
  MKS1	100.00	0	only for coding exons and intronic borders +/-14pb
  CEP290	99.99	0	only for coding exons and intronic borders +/-14pb
  WDPCP	100.00	0	only for coding exons and intronic borders +/-14pb
  SDCCAG8	100.00	0	only for coding exons and intronic borders +/-14pb
  LZTFL1	100.00	0	only for coding exons and intronic borders +/-14pb
  BBIP1	100.00	0	only for coding exons and intronic borders +/-14pb
  IFT27	100.00	0	only for coding exons and intronic borders +/-14pb
  BDNF	100.00	0	only for coding exons and intronic borders +/-14pb
  CREBBP	99.99	0	only for coding exons and intronic borders +/-14pb
  EP300	99.99	0	only for coding exons and intronic borders +/-14pb
  GNAS	99.34	0	only for coding exons and intronic borders +/-14pb
  INPP5E	97.02	0	only for coding exons and intronic borders +/-14pb
  LEP	100.00	1	only for coding exons and intronic borders +/-14pb
  LEPR	99.99	1	only for coding exons and intronic borders +/-14pb
  MAGEL2	99.54	0	only for coding exons and intronic borders +/-14pb
  MC3R	100.00	1	only for coding exons and intronic borders +/-14pb
  MC4R	100.00	1	only for coding exons and intronic borders +/-14pb
  MYT1L	100.00	0	only for coding exons and intronic borders +/-14pb
  NTRK2	100.00	0	only for coding exons and intronic borders +/-14pb
  PCSK1	99.99	0	only for coding exons and intronic borders +/-14pb
  PHF6	99.98	0	only for coding exons and intronic borders +/-14pb
  POMC	99.97	1	only for coding exons and intronic borders +/-14pb
  RAB23	100.00	0	only for coding exons and intronic borders +/-14pb
  SETD2	100.00	0	only for coding exons and intronic borders +/-14pb
  SH2B1	100.00	1	only for coding exons and intronic borders +/-14pb
  SIM1	100.00	1	only for coding exons and intronic borders +/-14pb
  TBX3	98.58	0	only for coding exons and intronic borders +/-14pb
  TUB	100.00	0	only for coding exons and intronic borders +/-14pb
  DYRK1B	99.94	0	only for coding exons and intronic borders +/-14pb
  MRAP2	100.00	0	only for coding exons and intronic borders +/-14pb

• Obesitas (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADCY3	99.96	1
  BDNF	100.00	1
  LEP	99.97	1
  LEPR	96.36	1
  MC3R	100.00	1
  MC4R	99.98	1
  NR0B2	99.99	1
  NTRK2	99.99	1
  PCSK1	99.99	1
  POMC	100.00	1
  SIM1	99.97	1
  UCP3	99.98	1

• Obesitas, early onset (8 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MC4R	100.00	0
  MC3R	100.00	0
  LEP	100.00	0
  LEPR	94.67	0
  PCSK1	100.00	0
  POMC	100.00	0
  SIM1	100.00	0
  NTRK2	100.00	0