Belgian Genetic Tests database
Malformations of cortical development (235 genes) - VUB
| Full name: |
Malformations of cortical development (235 genes) - VUB
|
| Abbreviation: |
MCD
|
| Description: |
http://www.brightcore.be/mcd
|
| Type of panel: | |
| Provider: |
home made
|
| Version number: |
V11
|
| Laboratory: | |
| Created: |
16 Jul 2019 - 10:53
|
| Changed: |
29 Jul 2022 - 09:44
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ACTB | 100.00 | 0 | No comment |
| ACTG1 | 100.00 | 0 | No comment |
| ADGRG1 | 100.00 | 0 | No comment |
| AFG2A | 100.00 | 0 | No comment |
| AGBL2 | 96.33 | 0 | No comment |
| AHI1 | 100.00 | 0 | No comment |
| AKT1 | 100.00 | 0 | No comment |
| AKT3 | 100.00 | 0 | No comment |
| ANTXR1 | 100.00 | 0 | No comment |
| AP1S2 | 100.00 | 0 | No comment |
| AP4E1 | 100.00 | 0 | No comment |
| AP4M1 | 100.00 | 0 | No comment |
| AP4S1 | 87.40 | 0 | No comment |
| ARFGEF2 | 100.00 | 0 | No comment |
| ARHGAP31 | 100.00 | 0 | No comment |
| ARID1B | 92.99 | 0 | No comment |
| ARL13B | 100.00 | 0 | No comment |
| ARX | 78.98 | 0 | No comment |
| ASNS | 100.00 | 0 | No comment |
| ASPM | 100.00 | 0 | No comment |
| ASXL1 | 99.91 | 0 | No comment |
| ATP6V0A2 | 100.00 | 0 | No comment |
| B3GALNT2 | 85.88 | 0 | No comment |
| B3GNT2 | 100.00 | 0 | No comment |
| B4GAT1 | 100.00 | 0 | No comment |
| BICD2 | 100.00 | 0 | No comment |
| C2CD3 | 100.00 | 0 | No comment |
| CACNA1E | 100.00 | 0 | No comment |
| CASK | 100.00 | 0 | No comment |
| CCND2 | 100.00 | 0 | No comment |
| CDK5 | 100.00 | 0 | No comment |
| CDK5RAP2 | 100.00 | 0 | No comment |
| CDK6 | 100.00 | 0 | No comment |
| CDON | 100.00 | 0 | No comment |
| CENPE | 100.00 | 0 | No comment |
| CENPJ | 100.00 | 0 | No comment |
| CEP135 | 100.00 | 0 | No comment |
| CEP152 | 100.00 | 0 | No comment |
| CEP55 | 100.00 | 0 | No comment |
| CHD7 | 100.00 | 0 | No comment |
| CHD8 | 100.00 | 0 | No comment |
| CIT | 100.00 | 0 | No comment |
| CKAP2L | 100.00 | 0 | No comment |
| CNOT1 | 100.00 | 0 | No comment |
| CNTNAP2 | 99.85 | 0 | No comment |
| COL18A1 | 97.80 | 0 | No comment |
| COL3A1 | 100.00 | 0 | No comment |
| COL4A1 | 98.71 | 0 | No comment |
| COL4A2 | 100.00 | 0 | No comment |
| CRADD | 100.00 | 0 | No comment |
| CRPPA | 95.75 | 0 | No comment |
| CSPP1 | 100.00 | 0 | No comment |
| CUL4B | 100.00 | 0 | No comment |
| DAB1 | 100.00 | 0 | No comment |
| DAG1 | 100.00 | 0 | No comment |
| DCHS1 | 99.64 | 0 | No comment |
| DCLK2 | 100.00 | 0 | No comment |
| DCX | 100.00 | 0 | No comment |
| DDX3X | 100.00 | 0 | No comment |
| DEPDC5 | 99.62 | 0 | No comment |
| DHCR7 | 100.00 | 0 | No comment |
| DISP1 | 100.00 | 0 | No comment |
| DKC1 | 100.00 | 0 | No comment |
| DOCK6 | 99.12 | 0 | No comment |
| DYNC1H1 | 100.00 | 0 | No comment |
| EIF2AK3 | 95.52 | 0 | No comment |
| EIF2S3 | 100.00 | 0 | No comment |
| EMG1 | 100.00 | 0 | No comment |
| EML1 | 97.08 | 0 | No comment |
| EMX2 | 100.00 | 0 | No comment |
| EOMES | 98.56 | 0 | No comment |
| EPG5 | 100.00 | 0 | No comment |
| ERCC1 | 100.00 | 0 | No comment |
| ERCC2 | 100.00 | 0 | No comment |
| ERCC5 | 100.00 | 0 | No comment |
| ERCC6 | 100.00 | 0 | No comment |
| ERMARD | 100.00 | 0 | No comment |
| EZH2 | 100.00 | 0 | No comment |
| FAT4 | 100.00 | 0 | No comment |
| FGF8 | 94.82 | 0 | No comment |
| FH | 100.00 | 0 | No comment |
| FIG4 | 100.00 | 0 | No comment |
| FKRP | 98.68 | 0 | No comment |
| FKTN | 100.00 | 0 | No comment |
| FLNA | 100.00 | 0 | No comment |
| FOXC1 | 62.57 | 0 | No comment |
| FOXG1 | 85.88 | 0 | No comment |
| FOXH1 | 100.00 | 0 | No comment |
| FUBP1 | 100.00 | 0 | No comment |
| GAS1 | 62.99 | 0 | No comment |
| GLI2 | 95.11 | 0 | No comment |
| GMPPB | 100.00 | 0 | No comment |
| GNAQ | 100.00 | 0 | No comment |
| GPC3 | 100.00 | 0 | No comment |
| GPSM2 | 100.00 | 0 | No comment |
| GRIN1 | 99.97 | 0 | No comment |
| GRIN2B | 100.00 | 0 | No comment |
| HEPACAM | 96.82 | 0 | No comment |
| HERC1 | 100.00 | 0 | No comment |
| HNRNPU | 99.54 | 0 | No comment |
| HSD17B4 | 100.00 | 0 | No comment |
| HYLS1 | 100.00 | 0 | No comment |
| IER3IP1 | 99.93 | 0 | No comment |
| INTS8 | 100.00 | 0 | No comment |
| JAM3 | 100.00 | 0 | No comment |
| KAT6A | 100.00 | 0 | No comment |
| KAT6B | 100.00 | 0 | No comment |
| KATNB1 | 100.00 | 0 | No comment |
| KDM5C | 100.00 | 0 | No comment |
| KIF11 | 100.00 | 0 | No comment |
| KIF21B | 100.00 | 0 | No comment |
| KIF2A | 98.88 | 0 | No comment |
| KIF5C | 100.00 | 0 | No comment |
| KIF7 | 96.94 | 0 | No comment |
| KIFBP | 100.00 | 0 | No comment |
| KNL1 | 98.62 | 0 | No comment |
| L1CAM | 100.00 | 0 | No comment |
| LAMA1 | 99.93 | 0 | No comment |
| LAMA2 | 100.00 | 0 | No comment |
| LAMB1 | 100.00 | 0 | No comment |
| LAMC3 | 97.51 | 0 | No comment |
| LARGE1 | 100.00 | 0 | No comment |
| MACF1 | 100.00 | 0 | No comment |
| MAN2C1 | 100.00 | 0 | No comment |
| MAP1B | 100.00 | 0 | No comment |
| MAPK8IP3 | 99.25 | 0 | No comment |
| MCPH1 | 100.00 | 0 | No comment |
| MECP2 | 98.28 | 0 | No comment |
| MED12 | 99.96 | 0 | No comment |
| MED17 | 100.00 | 0 | No comment |
| MEF2C | 100.00 | 0 | No comment |
| MFSD2A | 100.00 | 0 | No comment |
| MID1 | 100.00 | 0 | No comment |
| MPDZ | 100.00 | 0 | No comment |
| MTOR | 100.00 | 0 | No comment |
| MYCN | 86.70 | 0 | No comment |
| MYH10 | 100.00 | 0 | No comment |
| NBN | 100.00 | 0 | No comment |
| NDE1 | 100.00 | 0 | No comment |
| NEDD4L | 100.00 | 0 | No comment |
| NFIB | 100.00 | 0 | No comment |
| NHEJ1 | 100.00 | 0 | No comment |
| NIPBL | 99.98 | 0 | No comment |
| NODAL | 99.99 | 0 | No comment |
| NPRL2 | 100.00 | 0 | No comment |
| NPRL3 | 100.00 | 0 | No comment |
| NR2F1 | 92.00 | 0 | No comment |
| NSD1 | 100.00 | 0 | No comment |
| NSDHL | 100.00 | 0 | No comment |
| OCLN | 100.00 | 0 | No comment |
| OFD1 | 99.88 | 0 | No comment |
| PAFAH1B1 | 100.00 | 0 | No comment |
| PAX6 | 100.00 | 0 | No comment |
| PCNT | 100.00 | 0 | No comment |
| PEX1 | 100.00 | 0 | No comment |
| PI4KA | 99.44 | 0 | No comment |
| PIGA | 100.00 | 0 | No comment |
| PIK3CA | 100.00 | 0 | No comment |
| PIK3R2 | 89.19 | 0 | No comment |
| PITX2 | 100.00 | 0 | No comment |
| PLK4 | 100.00 | 0 | No comment |
| PNKP | 100.00 | 0 | No comment |
| POMGNT1 | 100.00 | 0 | No comment |
| POMGNT2 | 100.00 | 0 | No comment |
| POMK | 100.00 | 0 | No comment |
| POMT1 | 100.00 | 0 | No comment |
| POMT2 | 99.90 | 0 | No comment |
| PRRX1 | 100.00 | 0 | No comment |
| PSAT1 | 100.00 | 0 | No comment |
| PTCH1 | 98.48 | 0 | No comment |
| PTEN | 98.86 | 0 | No comment |
| PYCR2 | 100.00 | 0 | No comment |
| QARS1 | 100.00 | 0 | No comment |
| RAB18 | 100.00 | 0 | No comment |
| RAB3GAP1 | 100.00 | 0 | No comment |
| RAB3GAP2 | 100.00 | 0 | No comment |
| RELN | 99.96 | 0 | No comment |
| RNASEH2A | 100.00 | 0 | No comment |
| RNASEH2B | 95.67 | 0 | No comment |
| RNASEH2C | 100.00 | 0 | No comment |
| RNASET2 | 99.98 | 0 | No comment |
| RNU4ATAC | 100.00 | 0 | No comment |
| RTTN | 100.00 | 0 | No comment |
| RXYLT1 | 99.84 | 0 | No comment |
| SAMHD1 | 100.00 | 0 | No comment |
| SCN3A | 100.00 | 0 | No comment |
| SETD5 | 100.00 | 0 | No comment |
| SF3B4 | 100.00 | 0 | No comment |
| SHH | 92.83 | 0 | No comment |
| SIN3A | 99.82 | 0 | No comment |
| SIX3 | 99.59 | 0 | No comment |
| SLC25A19 | 100.00 | 0 | No comment |
| SLC35A2 | 100.00 | 0 | No comment |
| SLC9A6 | 99.96 | 0 | No comment |
| SMPD4 | 99.97 | 0 | No comment |
| SNAP29 | 100.00 | 0 | No comment |
| SOX9 | 97.88 | 0 | No comment |
| SRD5A3 | 99.42 | 0 | No comment |
| SRPX2 | 100.00 | 0 | No comment |
| STAMBP | 100.00 | 0 | No comment |
| STIL | 100.00 | 0 | No comment |
| STRADA | 100.00 | 0 | No comment |
| TBC1D20 | 93.59 | 0 | No comment |
| TBC1D24 | 100.00 | 0 | No comment |
| TBC1D7 | 100.00 | 0 | No comment |
| TCF4 | 100.00 | 0 | No comment |
| TCTN1 | 93.78 | 0 | No comment |
| TGIF1 | 100.00 | 0 | No comment |
| TMEM216 | 100.00 | 0 | No comment |
| TMEM67 | 100.00 | 0 | No comment |
| TMX2 | 100.00 | 0 | No comment |
| TREX1 | 100.00 | 0 | No comment |
| TSC1 | 100.00 | 0 | No comment |
| TSC2 | 100.00 | 0 | No comment |
| TSEN54 | 94.23 | 0 | No comment |
| TUBA1A | 100.00 | 0 | No comment |
| TUBA8 | 100.00 | 0 | No comment |
| TUBB | 99.87 | 0 | No comment |
| TUBB2A | 99.99 | 0 | No comment |
| TUBB2B | 100.00 | 0 | No comment |
| TUBB3 | 98.24 | 0 | No comment |
| TUBB4A | 99.85 | 0 | No comment |
| TUBG1 | 100.00 | 0 | No comment |
| TUBGCP4 | 99.99 | 0 | No comment |
| TUBGCP6 | 100.00 | 0 | No comment |
| UBE3A | 100.00 | 0 | No comment |
| VLDLR | 96.53 | 0 | No comment |
| VPS13B | 99.25 | 0 | No comment |
| WDR62 | 100.00 | 0 | No comment |
| WDR73 | 100.00 | 0 | No comment |
| YWHAE | 98.69 | 0 | No comment |
| ZEB2 | 100.00 | 0 | No comment |
| ZIC2 | 80.54 | 0 | No comment |
| ZNF335 | 100.00 | 0 | No comment |
| ZSWIM6 | 88.87 | 0 | No comment |