Table 1.
EpiSign v3 assay gene content.
| Syndrome | Episignature Abbreviation | Underlying Gene(s) or Region | OMIM |
|---|---|---|---|
| Alpha-thalassemia mental retardation syndrome | ATRX | ATRX | 301040 |
| Angelman syndrome | Angelman | UBE3A | 105830 |
| Arboleda–Tham syndrome | ARTHS | KAT6A | 616268 |
| Autism, susceptibility to, 18 | AUTS18 | CHD8 | 615032 |
| Beck–Fahrner syndrome | BEFAHRS | TET3 | 618798 |
| Beckwith–Wiedemann syndrome | BWS | Chr11p15 (ICR1, KCNQ1OT1, CDKN1C) | 130650 |
| Blepharophimosis intellectual disability SMARCA2 syndrome | BIS | SMARCA2 | 619293 |
| Börjeson–Forssman–Lehmann syndrome | BFLS | PHF6 | 301900 |
| Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | ADCADN | DNMT1 | 604121 |
| CHARGE syndrome | CHARGE | CHD7 | 214800 |
| Chr16p11.2 deletion syndrome | Chr16p11.2del | Chr16p11.2 deletion | 611913 |
| Coffin–Siris syndrome-1, 2 (CSS1,2) | CSS_c.6200 | ARID1A; ARID1B | 135900; 614607 |
| Coffin–Siris 1–4 (CSS1–4) and Nicolaides–Baraitser syndrome (NCBRS) | BAFopathy | ARID1B; ARID1A; SMARCB1; SMARCA4; SMARCA2 | 135900; 614607; 614608; 614609; 601358 |
| Coffin–Siris syndrome-4 (CSS4) | CSS_c.2656 | SMARCA4 | 614609 |
| Coffin–Siris syndrome-9 (CSS9) | CSS9 | SOX11 | 615866 |
| Cohen–Gibson syndrome; Weaver syndrome | PRC2 | EED; EZH2 | 617561; 277590 |
| Cornelia de Lange syndromes 1–4 | CdLS | NIPBL; SMC1A; SMC3; RAD21 | 122470; 300590; 610759; 614701 |
| Down syndrome | Down | Chr21 trisomy | 190685 |
| Dystonia-28, childhood onset | DYT28 | KMT2B | 617284 |
| Epileptic encephalopathy, childhood onset | EEOC | CHD2 | 615369 |
| Floating-Harbour syndrome | FLHS | SRCAP | 136140 |
| Fragile X syndrome | FXS | FMR1 | 300624 |
| Gabriele de Vries syndrome | GADEVS | YY1 | 617557 |
| Genitopatellar syndrome (see also Ohdo syndrome, SBBYSS variant) | GTPTS | KAT6B | 606170 |
| Helsmoortel–Van der Aa syndrome (ADNP syndrome (Central)) | HVDAS_C | ADNP | 615873 |
| Helsmoortel–Van der Aa syndrome (ADNP syndrome (Terminal)) | HVDAS_T | ADNP | 615873 |
| Hunter–McAlpine craniosynostosis syndrome | HMA | Chr5q35-qter duplication | 601379 |
| Immunodeficiency, centromeric instability, facial anomalies syndrome 1 (ICF1) | ICF_1 | DNMT3B | 242860 |
| Immunodeficiency, centromeric instability, facial anomalies syndrome 2,3,4 (ICF2,3,4) | ICF_2_3_4 | ZBTB24; CDCA7; HELLS | 614069; 616910; 616911 |
| Intellectual developmental disorder-65 | KDM4B | KDM4B | 619320 |
| Intellectual developmental disorder with seizures and language delay | IDDSELD | SETD1B | 619000 |
| Intellectual developmental disorder, X-linked 93 | MRX93 | BRWD3 | 300659 |
| Intellectual developmental disorder, X-linked 97 | MRX97 | ZNF711 | 300803 |
| Intellectual developmental disorder, X-linked, Snyder–Robinson type | MRXSSR | SMS | 309583 |
| Intellectual developmental disorder, X-linked, syndromic, Armfield type | MRXSA | FAM50A | 300261 |
| Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type | MRXSCJ | KDM5C | 300534 |
| Intellectual developmental disorder, X-linked syndromic, Nascimento-type | MRXSN | UBE2A | 300860 |
| Kabuki syndromes 1, 2 | Kabuki | KMT2D; KDM6A | 147920; 300867 |
| Kagami–Ogatta syndrome | KOS | Chr14q32 | 608149 |
| KDM2B-related syndrome | KDM2B | KDM2B | unofficial |
| Kleefstra syndrome 1 | Kleefstra | EHMT1 | 610253 |
| Koolen de Vries syndrome | KDVS | KANSL1 | 610443 |
| Luscan–Lumish syndrome | LLS | SETD2 | 616831 |
| Menke–Hennekam syndrome-1, 2 | MKHK_ID4 | CREBBP; EP300 | 618332; 618333 |
| Mental retardation, autosomal dominant 23 | MRD23 | SETD5 | 615761 |
| Mental retardation, autosomal dominant 51 | MRD51 | KMT5B | 617788 |
| Mental retardation, FRA12A type | DIP2B | DIP2B | 136630 |
| Myopathy, lactic acidosis, and sideroblastic anemia-2 | MLASA2 | YARS2 | 613561 |
| Ohdo syndrome, SBBYSS variant | SBBYSS | KAT6B | 603736 |
| Phelan–McDermid syndrome | PHMDS | Chr22q13.3 deletion | 606232 |
| Prader–Willi syndrome | PWS | Chr15q11 (SNRPN, NDN) | 176270 |
| Rahman syndrome | RMNS | HIST1H1E | 617537 |
| Renpenning syndrome | RENS1 | PQBP1 | 309500 |
| Rubinstein–Taybi syndrome 1 | RSTS1 | CREBBP | 180849 |
| Rubinstein–Taybi syndrome-1, 2 | RSTS | CREBBP; EP300 | 180849; 613684 |
| Rubinstein–Taybi syndrome-2 | RSTS2 | EP300 | 613684 |
| Silver–Russell syndrome 1 | SRS1 | Chr11p15.5 | 180860 |
| Silver–Russell syndrome 2 | SRS2 | Chr7p11.2 | 618905 |
| Sotos syndrome 1 | Sotos | NSD1 | 117550 |
| Tatton–Brown–Rahman syndrome | TBRS | DNMT3A | 615879 |
| Temple syndrome | Temple | Chr14q32 | 616222 |
| Velocardiofacial syndrome | VCFS | Chr22q11.2 deletion | 192430 |
| Wiedemann–Steiner syndrome | WDSTS | KMT2A | 605130 |
| Williams–Beuren deletion syndrome (Chr7q11.23 deletion syndrome) | Williams | Chr7q11.23 deletion | 194050 |
| Williams–Beuren duplication syndrome (Chr7q11.23 duplication syndrome) | Dup7 | Chr7q11.23 duplication | 609757 |
| Wolf–Hirschhorn syndrome | WHS | Chr4p16.13 deletion | 194190 |