Entwicklungsstörung
Gene für das Entwicklungsstörungs-Panel
Gene | Ref-Seq | Gene | Ref-Seq | Gene | Ref-Seq |
ANKRD11 | NM_013275.6 | ATRX | NM_000489.6 | ARID1A | NM_006015.6 |
KMT2A | NM_001197104.2 | CSNK2A1 | NM_001895.4 | CDKL5 | NM_003159.3 |
ARID1B | NM_001374820.1 | TRIP12 | NM_004238.3 | CHD8 | NM_001170629.2 |
DDX3X | NM_001193416.3 | CASK | NM_003688.3 | CTCF | NM_006565.4 |
MED13L | NM_015335.5 | WAC | NM_016628.5 | NEXMIF | NM_001008537.3 |
SYNGAP1 | NM_006772.3 | AUTS2 | NM_015570.4 | BRAF | NM_004333.6 |
DYRK1A | NM_001396.5 | CHD7 | NM_017780.4 | HUWE1 | NM_031407.7 |
MECP2 | NM_004992.4 | DNMT3A | NM_175629.2 | KDM6A | NM_021140.4 |
ADNP | NM_015339.5 | HNRNPU | NM_031844.3 | MYT1L | NM_015025.4 |
SETD5 | NM_001080517.3 | ITPR1 | NM_002222.7 | SMARCA4 | NM_001128849.3 |
CREBBP | NM_004380.3 | SMAD4 | NM_005359.6 | SRCAP | NM_006662.3 |
EP300 | NM_001429.4 | VPS13B | NM_017890.5 | USP9X | NM_001039590.3 |
SATB2 | NM_015265.4 | KIF1A | NM_004321.8 | CHD4 | NM_001273.5 |
EHMT1 | NM_024757.5 | KMT2D | NM_003482.4 | EIF3F | NM_003754.3 |
STXBP1 | NM_003165.6 | NFIX | NM_001271043.2 | KMT2C | NM_170606.3 |
IQSEC2 | NM_001111125.3 | TCF20 | NM_005650.4 | KMT5B | NM_017635.5 |
KCNQ2 | NM_172107.4 | BPTF | NM_004459.7 | MED12 | NM_005120.3 |
ASXL3 | NM_030632.3 | PACS1 | NM_018026.4 | NAA10 | NM_003491.4 |
CTNNB1 | NM_001904.4 | PUF60 | NM_078480.3 | OPHN1 | NM_002547.3 |
SCN2A | NM_021007.3 | SETBP1 | NM_015559.3 | PPM1D | NM_003620.4 |
FOXP1 | NM_032682.6 | ARID2 | NM_152641.4 | PPP2R1A | NM_014225.6 |
PTPN11 | NM_002834.5 | BCL11A | NM_022893.4 | ZBTB18 | NM_205768.3 |
TCF4 | NM_001083962.2 | CHD3 | NM_001005271.3 | BRPF1 | NM_001003694.2 |
KAT6A | NM_006766.5 | EBF3 | NM_001005463.3 | CNOT3 | NM_014516.4 |
CDK13 | NM_003718.5 | EEF1A2 | NM_001958.5 | FOXP2 | NM_014491.4 |
EFTUD2 | NM_004247.4 | ACTB | NM_001101.5 | MAP2K1 | NM_002755.4 |
PPP2R5D | NM_006245.4 | NAA15 | NM_057175.5 | NRXN1 | NM_001135659.3 |
TBL1XR1 | NM_024665.7 | SIN3A | NM_001145358.2 | PHF6 | NM_032458.3 |
GATAD2B | NM_020699.4 | SMARCA2 | NM_003070.5 | PHIP | NM_017934.7 |
KAT6B | NM_012330.4 | SOX5 | NM_006940.6 | SLC9A6 | NM_006359.3 |
MEF2C | NM_002397.5 | GNAO1 | NM_020988.3 | SMC3 | NM_005445.4 |
TRIO | NM_007118.4 | GRIN1 | NM_007327.4 | TRRAP | NM_003496.4 |
NSD1 | NM_022455.5 | HECW2 | NM_020760.4 | ZEB2 | NM_014795.4 |
SMC1A | NM_006306.4 | KANSL1 | NM_001193466.2 | CUL4B | NM_003588.4 |
HDAC8 | NM_018486.3 | KDM5C | NM_004187.5 | GNAI1 | NM_002069.6 |
POGZ | NM_015100.4 | LZTR1 | NM_006767.4 | PHF8 | NM_015107.3 |
AHDC1 | NM_001029882.3 | UBE3A | NM_130838.4 | QRICH1 | NM_017730.4 |
ZC4H2 | NM_018684.4 | RPS6KA3 | NM_004586.3 |