Belgian Genetic Tests database
Autism (57 genes) - IPG
| Full name: |
Autism (57 genes) - IPG
|
| Version number: |
Version 3
|
| Laboratory: | |
| Created: |
04 Jul 2019 - 08:45
|
| Changed: |
10 Oct 2022 - 14:50
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ADARB2 | 100.00 | 1 | NM_018702.4 |
| ADNP | 100.00 | 1 | NM_001282531.3 |
| ANK2 | 100.00 | 1 | NM_001148.6 |
| ANKRD11 | 100.00 | 1 | NM_013275.6 |
| ARID1B | 98.00 | 1 | NM_001374828.1 |
| BCKDK | 100.00 | 1 | NM_005881.4 |
| CACNA1C | 100.00 | 1 | NM_000719.7 |
| CHD3 | 100.00 | 1 | NM_001005273.3 |
| CHD7 | 100.00 | 1 | NM_017780.4 |
| CHD8 | 100.00 | 1 | NM_001170629.2 |
| CHRNA7 | 0.00 | 1 | NM_000746.6 / Exons 1-4 (5-10 not covered) / % unknown |
| CNTNAP2 | 100.00 | 1 | NM_014141.6 |
| CNTNAP4 | 100.00 | 1 | NM_033401.5 |
| DHCR7 | 100.00 | 1 | NM_001360.3 |
| DYRK1A | 100.00 | 1 | NM_001347721.2 |
| FMR1 | 100.00 | 1 | NM_002024.6 |
| FOXP1 | 100.00 | 1 | NM_032682.6 |
| FOXP2 | 100.00 | 1 | NM_014491.4 |
| GRIN2A | 100.00 | 1 | NM_001134407.3 |
| GRIN2B | 100.00 | 1 | XM_011520629.2 |
| HDAC4 | 100.00 | 1 | NM_006037.3 |
| KATNAL2 | 100.00 | 1 | NM_031303.3 |
| KCNB1 | 100.00 | 1 | NM_004975.4 |
| MECP2 | 100.00 | 1 | NM_001110792.2 and NM_004992.3 |
| MEF2C | 100.00 | 1 | NM_002397.5 |
| MTOR | 100.00 | 1 | NM_004958.4 |
| NIPBL | 100.00 | 1 | NM_133433.4 |
| NLGN1 | 100.00 | 1 | NM_014932.5 |
| NLGN3 | 100.00 | 1 | NM_181303.2 |
| NLGN4X | 100.00 | 1 | NM_181332.3 |
| NLGN4Y | 100.00 | 1 | NM_014893.4 |
| NRXN1 | 100.00 | 1 | NM_001330078.2 |
| NRXN2 | 100.00 | 1 | NM_015080.4 |
| NRXN3 | 100.00 | 1 | NM_001330195.2 |
| POGZ | 100.00 | 1 | NM_015100.4 |
| PPP2R5D | 100.00 | 1 | NM_006245.4 |
| PTCHD1 | 100.00 | 1 | NM_173495.3 |
| PTEN | 100.00 | 1 | NM_000314.8 |
| RAI1 | 100.00 | 1 | NM_030665.4 |
| RIMS1 | 100.00 | 1 | NM_014989.5 |
| SCN1A | 100.00 | 1 | NM_001165963.3 |
| SCN2A | 100.00 | 1 | NM_001040142.2 |
| SCN8A | 100.00 | 1 | NM_001330260.2 |
| SHANK1 | 100.00 | 1 | NM_016148.5 |
| SHANK2 | 100.00 | 1 | NM_133266.5 |
| SHANK3 | 100.00 | 1 | NM_001372044.1 |
| SMC1A | 100.00 | 1 | NM_006306.4 |
| SMC3 | 100.00 | 1 | NM_005445.4 |
| SYNGAP1 | 100.00 | 1 | NM_006772.3 |
| TBL1XR1 | 100.00 | 1 | NM_024665.7 |
| TBR1 | 100.00 | 1 | NM_006593.4 |
| TCF20 | 100.00 | 1 | NM_005650.3 |
| TMLHE | 100.00 | 1 | NM_018196.4 |
| TSC1 | 100.00 | 1 | NM_000368.5 |
| TSC2 | 100.00 | 1 | NM_000548.5 |
| UBE3A | 100.00 | 1 | NM_130839.5 |
| VPS13B | 100.00 | 1 | NM_017890.4 |