Eligibility Criteria
Child is eligible if:
- Older than 6 months and younger than 16 years
- Has developmental delay and/or learning difficulties and/or autism
- Has a confirmed genetic diagnosis in one of the genes listed in the table below
- Lives in the UK
Unfortunately we cannot include the child in the study if they:
- Have more than one genetic change
- Were diagnosed through the DDD study *
- Have a genetic variant that has been described as uncertain (VUS)
- If their genetic change includes more than one gene (such as in a chromosome microdeletion or microduplication)
*DDD patients not eligible because we are working with DECIPHER to build on some of the data from DDD and would “double count” patients. Any other study is fine.
| ACTB | CNTNAP1 | IQSEC2 | NSD2 | SLC9A6 |
| ACTL6B | CSNK2A1 | ITPR1 | OPHN1 | SMC1A |
| ADNP | CTCF | KANSL1 | PACS1 | SMC3 |
| AHDC1 | CTNNB1 | KAT6A | PHIP | SON |
| ANKRD11 | CUL4B | KAT6B | PIGN | SOX5 |
| ASH1L | DDX3X | KCNQ2 | POGZ | SPTAN1 |
| ASXL3 | DEAF1 | KDM5B | PPP2R5D | SRCAP |
| ATP1A3 | DPF2 | KDM5C | PRMT7 | STXBP1 |
| ATRX | DYNC1H1 | KIF1A | PUF60 | SYNGAP1 |
| AUTS2 | DYRK1A | KMT2A | PURA | TAF1 |
| BCL11A | EBF3 | KMT2C | RAI1 | TBL1XR1 |
| BPTF | EEF1A2 | KMT5B | RERE | TCF20 |
| BRPF1 | EFTUD2 | LZTR1 | RNU4-2 | TCF4 |
| BRWD3 | ERF | MAGEL2 | RPS6KA3 | TLK2 |
| CACNA1A | FBX011 | MECP2 | SATB2 | TRAPPC9 |
| CAMTA1 | FOXG1 | MED12 | SCN1A | TRIO |
| CASK | FOXP1 | MED13 | SCN1B | TRIP12 |
| CDK13 | GATAD2B | MED13L | SCN2A | TUBA1A |
| CHAMP1 | GLI2 | MEF2C | SCN8A | USP9X |
| CHD2 | GRIK2 | MYT1L | SETD1A | VPS13B |
| CHD3 | GRIN1 | NAA10 | SETD5 | WAC |
| CHD4 | GRIN2A | NAA15 | SHANK2 | WDR45 |
| CHD7 | GRIN2B | NALCN | SHANK3 | WDR62 |
| CHD8 | HECW2 | NEXMIF | SIN3A | WDR73 |
| CLTC | HNRNPU | NFIX | SLC6A1 | ZBTB20 |
| CNOT3 | HUWE1 | NRXN1 | SLC6A8 | ZMYND11 |
To view and download a PDF copy of the above table, click the link below.