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Diagnostic Test: OBESITÀ GENETICHE MENDELIANE

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Diagnostic Test: OBESITÀ GENETICHE MENDELIANE Diagnostic test: OBESITÀ GENETICHE MENDELIANE MENDELIAN OBESITY Panel / Illumina Custom panel, Nextera Enrichment Technology / Coding exons and flanking regions of genes List of gene(s) and disease(s) tested: ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CARTPT, CEP19, CEP290, DYRK1B, GNAS, HDAC8, IFT172, IFT27, INPP5E, INSR, KSR2, LEP, LEPR, LZTFL1, MC3R, MC4R, MCHR1, MEGF8, MKKS, MKS1, NR0B2, PCSK1, PHF6, POMC, PPARG, PPP1R3A, RAB23, SDCCAG8, SH2B1, SIM1, TRIM32, TTC8, UCP3, VPS13B, WDPCP ORPHA:98267 Obesità non sindromica genetica Obesità sindromica Tabella Elenco delle forme di OBESITÀ GENETICHE MENDELIANE e la loro eziologia genetica Phenotype OMIM# Gene OMIM# Phenotype Gene Alstrom syndrome 203800 ALMS1 606844 Bardet-Biedl syndrome 3 600151 ARL6 608845 Bardet-Biedl syndrome 18 615995 BBIP1 613605 Bardet-Biedl syndrome 1 209900 BBS1 209901 Bardet-Biedl syndrome 10 615987 BBS10 610148 Bardet-Biedl syndrome 12 615989 BBS12 610683 Bardet-Biedl syndrome 2 615981 BBS2 606151 Bardet-Biedl syndrome 4 615982 BBS4 600374 Bardet-Biedl syndrome 5 615983 BBS5 603650 Bardet-Biedl syndrome 7 615984 BBS7 607590 Bardet-Biedl syndrome 21 617406 C8orf37 614477 Obesity, severe HGMD CARTPT 602606 Morbid obesity and spermatogenic failure; Bardet-Biedl syndrome; Morbid obesity 615703; HGMD CEP19 615586 Bardet-Biedl syndrome 14 615991 CEP290 610142 Abdominal obesity-metabolic syndrome 3 615812 DYRK1B 604556 Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ic 103580; 612462 GNAS 139320 Cornelia de Lange syndrome 5 300882 HDAC8 300269 Bardet-Biedl syndrome HGMD IFT172 607386 Bardet-Biedl syndrome 19 615996 IFT27 615870 Mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156 INPP5E 613037 Obesity & learning disability HGMD INSR 147670 Obesity and insulin resistance HGMD KSR2 610737 Obesity, morbid, due to leptin deficiency 614962 LEP 164160 Obesity, morbid, due to leptin receptor deficiency 614963 LEPR 601007 Bardet-Biedl syndrome 17 615994 LZTFL1 606568 Obesity; Obesity, autosomal dominant; Obesity, severe; Obesity, early onset HGMD MC3R 155540 Obesity (BMIQ20) 618406 MC4R 155541 Obesity HGMD MCHR1 601751 Carpenter syndrome 2 614976 MEGF8 604267 Bardet-Biedl syndrome 6 605231 MKKS 604896 Bardet-Biedl syndrome 13 615990 MKS1 609883 Obesity, mild, early-onset 601665 NR0B2 604630 Obesity with impaired prohormone processing 600955 PCSK1 162150 Borjeson-Forssman-Lehmann syndrome 301900 PHF6 300414 Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 POMC 176830 Obesity, severe 601665 PPARG 601487 Insulin resistance, severe, digenic 125853 PPP1R3A 600917 Bardet-Biedl syndrome 9 615986 PTHB1 607968 Carpenter syndrome 201000 RAB23 606144 Bardet-Biedl syndrome 16 615993 SDCCAG8 613524 Obesity, severe, early-onset HGMD SH2B1 608937 Obesity; Obesity, early onset; Obesity and developmental delay; Obesity, HGMD SIM1 603128 autosomal dominant Bardet-Biedl syndrome 11 615988 TRIM32 602290 Bardet-Biedl syndrome 8 615985 TTC8 608132 Obesity, severe, and type II diabetes 601665 UCP3 602044 Cohen syndrome 216550 VPS13B 607817 Bardet-Biedl syndrome 15 615992 WDPCP 613580 HGMD = Human Gene Mutation Database (https://portal.biobase-international.com/hgmd/pro/start.php?) .
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