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פאנלים

Obesity

GC_7

Last update: 07.01.2026

Monogenic obesity is characterized by severe, often early-onset obesity caused by inherited abnormalities affecting appetite and satiety regulation, energy homeostasis, hypothalamic signaling, or broader developmental pathways. Clinical manifestations may include hyperphagia, developmental delay, endocrine abnormalities, dysmorphic features, and multisystem involvement.

This panel includes genes associated with monogenic obesity, hypothalamic obesity syndromes, ciliopathies, and other syndromic disorders in which obesity is a prominent feature.

This panel is recommended for patients with severe childhood-onset obesity, particularly when associated with marked hyperphagia, developmental abnormalities, endocrine dysfunction, dysmorphic features, or other findings suggestive of a monogenic or syndromic obesity disorder.
ADCY3, AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8ORF37, CEP164, CEP19, CEP290, CPE, CREBBP, CUL4B, DYRK1B, EP300, FBN3, GNAS, GNB1, GPR101, IFT172, IFT27, IFT74, INPP5E, KDM6A, KIDINS220, KIF7, KMT2D, KSR2, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MEGF8, MKKS, MKS1, MRAP2, MYT1L, NLGN2, NPY, NR0B2, NTRK2, PCSK1, PGM2L1, PHF6, PHIP, POMC, PPARG, PRMT7, PTPN4, RAB23, RAI1, RPS6KA3, SCLT1, SDCCAG8, SETD2, SH2B1, SIM1, STX16, TRAPPC3, TRAPPC9, TRIM32, TRPC5, TTC8, TUB, UCP3, VPS13B, WDPCP

ClinVar P/LP variants (IDs) not covered: CEP290:[3774377] | RAI1:[1321231]

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