Table 1.
List of episignatures and their corresponding syndromes and genes or genomic regions
| Syndrome | Signature abbreviation | Underlying gene or region | OMIM | Samples | In EpiSign V2 classifier |
|---|---|---|---|---|---|
| X-linked alpha-thalassemia/mental retardation syndrome (ATRX) | ATRX | ATRX | 301040 | 22 | yes |
| Arboleda-Tham syndrome (ARTHS) | ARTHS | KAT6A | 616268 | 18 | no |
| Autism, susceptibility to, 18 (AUTS18) | AUTS18 | CHD8 | 615032 | 28 | yes |
| Beck-Fahrner syndrome (BEFAHRS) | BEFAHRS | TET3 | 618798 | 16 | no |
| Blepharophimosis Intellectual disability SMARCA2 syndrome | BISS | SMARCA2 | 619293 | 5 | yes |
| Börjeson-Forssman-Lehmann syndrome (BFLS) | BFLS | PHF6 | 301900 | 16 | yes |
| Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) | ADCADN | DNMT1 | 604121 | 5 | yes |
| CHARGE syndrome | CHARGE | CHD7 | 214800 | 65 | yes |
| Chr16p11.2 deletion syndrome, 593-KB | Chr16p11.2del | Chr16p11.2 deletion | 611913 | 18 | no |
| Coffin-Siris syndrome-1,2 (CSS1,2) | CSS_c.6200a | ARID1B; ARID1A | 135900; 614607 | 4 | no |
| Coffin-Siris syndrome-1,2,3,4 (CSS1,2,3,4); Nicolaides-Baraitser syndrome (NCBRS) | BAFopathy | ARID1B; ARID1A; SMARCB1; SMARCA4; SMARCA2 | 135900; 614607; 614608; 614609; 601358 | 97 | yes |
| Coffin-Siris syndrome-4 (CSS4) | CSS4_c.2656a | SMARCA4 | 614609 | 3 | no |
| Coffin-Siris syndrome-9 (CSS9) | CSS9 | SOX11 | 615866 | 10 | no |
| Cohen-Gibson syndrome (COGIS); Weaver syndrome (WVS) | PRC2 | EED; EZH2 | 617561; 277590 | 7 | yes |
| Cornelia de Lange syndromes 1,2,3,4 (CDLS1,2,3,4) | CdLS | NIPBL; SMC1A; SMC3; RAD21 | 122470; 300590; 610759; 614701 | 57 | yes |
| Down syndrome | Down | Chr21 trisomy | 190685 | 40 | yes |
| Dystonia 28, childhood-onset (DYT28) | DYT28 | KMT2B | 617284 | 11 | no |
| Epileptic encephalopathy, childhood-onset (EEOC) | EEOC | CHD2 | 615369 | 8 | yes |
| Floating Harbor syndrome (FLHS) | FLHS | SRCAP | 136140 | 20 | yes |
| Gabriele-de Vries syndrome (GADEVS) | GADEVS | YY1 | 617557 | 10 | no |
| Genitopatellar syndrome (see also Ohdo syndrome, SBBYSS variant) (KAT6B) | GTPTS | KAT6B | 606170 | 4 | yes |
| Helsmoortel-van der Aa syndrome (HVDAS) | HVDAS_Ca | ADNP | 615873 | 13 | yes |
| Helsmoortel-van der Aa syndrome (HVDAS) | HVDAS_Ta | ADNP | 615873 | 23 | yes |
| Hunter McAlpine craniosynostosis syndrome | HMA | Chr5q35-qter duplication | 601379 | 4 | yes |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) | ICF_1 | DNMT3B | 242860 | 8 | yes |
| Immunodeficiency-centromeric instability-facial anomalies syndromes 2,3,4 (ICF2,3,4) | ICF_2_3_4 | ZBTB24; CDCA7; HELLS | 614069; 616910; 616911 | 7 | yes |
| Intellectual developmental disorder with seizures and language delay (IDDSELD) | IDDSELD | SETD1B | 619000 | 10 | yes |
| Kabuki syndromes 1,2 (KABUK1,2) | Kabuki | KMT2D; KDM6A | 147920; 300867 | 149 | yes |
| KDM2B-related syndrome | KDM2B | KDM2B | unofficial | 9 | no |
| Autosomal dominant intellectual developmental disorder-65 (MRD65) | KDM4B | KDM4B | 619320 | 6 | no |
| Kleefstra syndrome 1 (KLEFS1) | Kleefstra | EHMT1 | 610253 | 32 | yes |
| Koolen de Vreis syndrome (KDVS) | KDVS | KANSL1 | 610443 | 11 | yes |
| Luscan-Lumish syndrome (LLS) | LLS | SETD2 | 616831 | 4 | no |
| Menke-Hennekam syndromes 1,2 (MKHK1,2) | MKHK_ID4a | CREBBP; EP300 | 618332; 618333 | 13 | no |
| Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) | MRXSA | FAM50A | 300261 | 6 | no |
| Mental retardation, autosomal dominant 23 (MRD23) | MRD23 | SETD5 | 615761 | 25 | yes |
| Mental retardation, autosomal dominant 51 (MRD51) | MRD51 | KMT5B | 617788 | 7 | yes |
| Intellectual developmental disorder, X-linked 93 (MRX93) | MRX93 | BRWD3 | 300659 | 11 | yes |
| Intellectual developmental disorder, X-linked 97 (MRX97) | MRX97 | ZNF711 | 300803 | 15 | yes |
| Intellectual developmental disorder, X-linked syndromic, Nascimento-type (MRXSN) | MRXSN | UBE2A | 300860 | 4 | yes |
| Intellectual developmental disorder, X-linked, Snyder-Robinson type (MRXSSR) | MRXSSR | SMS | 309583 | 17 | yes |
| Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | MRXSCJ | KDM5C | 300534 | 49 | yes |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) | MLASA2 | YARS2 | 613561 | 11 | no |
| Ohdo syndrome, SBBYSS variant (SBBYSS) | SBBYSS | KAT6B | 603736 | 10 | yes |
| Phelan-McDermid syndrome (PHMDS) | PHMDS | Chr22q13.3 deletion | 606232 | 11 | no |
| Rahman syndrome (RMNS) | RMNS | HIST1H1E | 617537 | 8 | yes |
| Renpenning syndrome (RENS1) | RENS1 | PQBP1 | 309500 | 8 | no |
| Rubinstein-Taybi syndrome 1 (RSTS1) | RSTS1 | CREBBP | 180849 | 37 | no |
| Rubinstein-Taybi syndromes 1,2 (RSTS1,2) | RSTS | CREBBP; EP300 | 180849; 613684 | 39 | yes |
| Rubinstein-Taybi syndrome 2 (RSTS2) | RSTS2 | EP300 | 613684 | 29 | no |
| Sotos syndrome 1 (SOTOS1) | Sotos | NSD1 | 117550 | 69 | yes |
| Tatton-Brown-Rahman syndrome (TBRS) | TBRS | DNMT3A | 615879 | 27 | yes |
| Velocardiofacial syndrome (VCFS) | VCFS | Chr22q11.2 deletion | 192430 | 11 | no |
| Wiedemann-Steiner syndrome (WDSTS) | WDSTS | KMT2A | 605130 | 42 | yes |
| Williams-Beuren deletion syndrome (WBS) | Williams | Chr7q11.23 deletion | 194050 | 22 | yes |
| Williams-Beuren duplication syndrome (Chr7q11.23 duplication syndrome) | Dup7 | Chr7q11.23 duplication | 609757 | 13 | yes |
| Wolf-Hirschhorn syndrome (WHS) | WHS | Chr4p16.13 deletion | 194190 | 12 | yes |
a
Episignatures that encompass a specific region or variant within a gene.