Belgian Genetic Tests database- Diseases
- Obesity due to congenital leptin deficiency
Obesity due to congenital leptin deficiency
| Name: |
Obesity due to congenital leptin deficiency
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| Description: |
Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.
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| ORPHAcode: |
66628
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Early-onset severe obesity (44 genes) - ULG
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 -
Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LEPR 98.65 0 NM_002303 KISS1 99.66 0 NM_002256 RD3 99.63 0 NM_183059 HS6ST1 92.39 0 NM_004807 CXCR4 99.63 0 NM_003467 CCDC141 97.45 0 NM_173648 NRP2 99.58 0 NM_201266 IL17RD 94.68 0 NM_017563 HESX1 98.36 0 NM_003865 PROK2 90.75 0 NM_001126128 GAP43 97.81 0 NM_001130064 PLXNA1 99.67 0 NM_032242 SOX2 95.94 0 NM_003106 KLB 99.62 0 NM_175737 GNRHR 99.45 0 NM_000406 TACR3 99.41 0 NM_001059 OTUD4 98.02 0 NM_001102653 PCSK1 99.63 0 NM_000439 SOX9 99.60 0 NM_001035235 SPRY4 99.69 0 NM_030964 PROP1 99.69 0 NM_006261 GLI3 99.55 0 NM_000168 SEMA3E 99.45 0 NM_012431 SEMA3A 99.53 0 NM_006080 FEZF1 99.43 0 NM_001024613 LEP 99.69 0 NM_000230 FGF17 99.67 0 NM_003867 GNRH1 99.54 0 NM_000825 FGFR1 99.69 0 NM_023110 CHD7 99.53 0 NM_017780 TRAPPC9 99.57 0 NM_031466 PALM2 98.64 0 NM_001037293 NOTCH1 96.74 0 NM_017617 NSMF 93.42 0 NM_015537 MASTL 99.20 0 NM_032844 FGF8 78.88 0 NM_033163 WDR11 99.33 0 NM_018117 CCKBR 99.61 0 NM_176875 FSHB 99.64 0 NM_000510 PLEKHA5 98.89 0 NM_001143821 PDE3A 99.05 0 NM_000921 TSPAN11 99.69 0 NM_001080509 AMN1 99.52 0 NM_001113402 TAC3 99.64 0 NM_013251 DUSP6 99.68 0 NM_001946 POLR3B 99.29 0 NM_018082 CRY1 99.26 0 NM_004075 NOS1 99.42 0 NM_000620 SEMA7A 92.63 0 NM_003612 DCC 99.55 0 NM_005215 KISS1R 85.01 0 NM_032551 AXL 99.69 0 NM_021913 LHB 99.69 0 NM_000894 PROKR2 99.69 0 NM_144773 JAG1 97.49 0 NM_000214 FLRT3 99.67 0 NM_198391 SOX10 93.26 0 NM_006941 ANOS1 93.11 0 NM_000216 NR0B1 99.34 0 NM_000475 FGF13 99.32 0 NM_004114 SOX3 83.29 0 NM_005634 -
Obesitas (genepanel) - UZA
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
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