Belgian Genetic Tests database- Analytes
- ADSS1
ADSS1
| Name: |
adenylosuccinate synthase 1
|
| Symbol: |
ADSS1
|
| XREF(s): | |
| Created: |
28 Jun 2021 - 14:48
|
| Changed: |
28 Jun 2021 - 14:48
|
-
Myopathy (179 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 ACAD9 ACADM ACADS ACADVL ACTA1 ADSS1 AGK AGL AGRN ALDOA ALG14 ALG2 ANO5 ATP2A1 B3GALNT2 B3GNT2 BAG3 BIN1 BVES CAPN3 CASQ1 CAV3 CAVIN1 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN1 CNBP COL12A1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRPPA CRYAB DAG1 DCST2 DES DMD DMPK DNAJB6 DNM2 DNMT3B DOK7 DPAGT1 DPM2 DPM3 DYSF EMD ENO3 ETFA ETFDH FDX2 FHL1 FKRP FKTN FLNC GAA GBE1 GFER GFPT1 GMPPB GNE GYG1 GYS1 HADH HADHA HADHB HNRNPA1 HNRNPA2B1 HNRNPDL ISCU ITGA7 ITGA9 KBTBD13 KCNJ2 KLHL40 KLHL41 KLHL9 LAMA2 LAMB2 LAMP2 LARGE1 LDB3 LDHA LIMS2 LMNA LPIN1 LRP4 MAP3K20 MATR3 MEGF10 MTM1 MUSK MYBPC3 MYF6 MYH14 MYH2 MYH3 MYH7 MYL1 MYL2 MYOT MYPN NEB OPA1 ORAI1 PABPN1 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKB PLEC PNPLA2 POGLUT1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PRKAG2 PYGM RAPSN RBCK1 RXYLT1 RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SIL1 SLC22A5 SLC25A20 SLC25A4 SMCHD1 SPEG SQSTM1 STAC3 STIM1 SYNE1 SYNE2 SYT2 TCAP TIA1 TK2 TMEM126B TMEM43 TNNI2 TNNT1 TNNT3 TNPO3 TNXB TOP3A TOR1AIP1 TPI1 TPM2 TPM3 TRAPPC11 TRDN TRIM32 TRMT5 TTN TWNK VCP VMA21