Belgian Genetic Tests database
Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
| Full name: |
Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
|
| Type of panel: | |
| Provider: |
home made
|
| Version number: |
V7
|
| Laboratory: | |
| Created: |
14 Dec 2022 - 14:26
|
| Changed: |
11 Dec 2023 - 12:55
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ABCC8 | 100.00 | 1 | NM_000352.6 |
| AGPAT2 | 100.00 | 1 | NM_006412.4 |
| AKT2 | 100.00 | 1 | NM_001626.6 |
| ALMS1 | 100.00 | 1 | NM_001378454.1 |
| BLM | 100.00 | 1 | NM_000057.4 |
| BSCL2 | 100.00 | 1 | NM_001122955.4 |
| CAV1 | 100.00 | 1 | NM_001753.5 |
| CAVIN1 | 100.00 | 1 | NM_012232.6 |
| CIDEC | 100.00 | 1 | NM_001321142.2 |
| GCK | 100.00 | 1 | NM_000162.5 |
| GLUD1 | 100.00 | 1 | NM_005271.5 |
| HADH | 100.00 | 1 | NM_005327.7 |
| HNF1A | 100.00 | 1 | NM_000545.8 |
| HNF4A | 100.00 | 1 | NM_175914.5 |
| INSR | 100.00 | 1 | NM_000208.4 |
| KCNJ11 | 100.00 | 1 | NM_000525.4 |
| LIPE | 100.00 | 1 | NM_005357.4 |
| LMNA | 100.00 | 1 | NM_170707.4 |
| MAFA | 100.00 | 1 | NM_201589.4 |
| PCNT | 100.00 | 1 | NM_006031.6 |
| PCYT1A | 100.00 | 1 | NM_001312673.2 |
| PIK3R1 | 100.00 | 1 | NM_181523.3 |
| PLAAT3 | 100.00 | 1 | NM_001128203.2 |
| POLD1 | 100.00 | 1 | NM_002691.4 |
| PPARG | 100.00 | 1 | NM_138711.6 |
| PPP1R3A | 100.00 | 1 | NM_002711.4 |
| SLC16A1 | 100.00 | 1 | NM_003051.4 |
| UCP2 | 100.00 | 1 | NM_003355.3 |
| WRN | 100.00 | 1 | NM_000553.6 |
| ZMPSTE24 | 100.00 | 1 | NM_005857.5 |