Institut für Humangenetik

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