Belgian Genetic Tests database
Early-onset severe obesity (44 genes) - ULG
| Full name: |
Early-onset severe obesity (44 genes) - ULG
|
| Abbreviation: |
OBZT panel
|
| Description: |
Early-onset severe obesity (monogenic or syndromic).
Investigation of : - Point mutations in 44 genes panel by NGS - Deletions/duplications in 8 genes (LEP, LEPR, MC2R, MC3R, MC4R, POMC, SIM1, 16p11.2 region) by MLPA (MRC Holland P220) |
| Type of panel: | |
| Provider: |
Twist Biosciences
|
| Laboratory: | |
| Created: |
13 Dec 2019 - 14:56
|
| Changed: |
13 Dec 2021 - 14:00
|
| 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 |
| ARL6 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| BBIP1 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| BBS1 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| BBS10 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| BBS12 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| BBS2 | 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 |
| BBS7 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| BBS9 | 99.99 | 0 | only for coding exons and intronic borders +/-14pb |
| BDNF | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| CEP290 | 99.99 | 0 | only for coding exons and intronic borders +/-14pb |
| CREBBP | 99.99 | 0 | only for coding exons and intronic borders +/-14pb |
| DYRK1B | 99.94 | 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 |
| IFT27 | 100.00 | 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 |
| LZTFL1 | 100.00 | 0 | 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 |
| MKKS | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| MKS1 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| MRAP2 | 100.00 | 0 | 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 |
| SDCCAG8 | 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 |
| TRIM32 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| TTC8 | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| TUB | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |
| WDPCP | 100.00 | 0 | only for coding exons and intronic borders +/-14pb |