Table 1. Human genetic diseases associated with Trithorax group related genes.
Human disease associations, and Autism susceptibility according to SFARI gene classification for Trithorax group related genes. Scoring for SFARI gene is as follows: syndromic (S), high confidence (1), and strong candidate (2).
| Trithorax Group Class | Gene Name | Human Disease Association | SFARI Gene Score | SFARI Syndromic |
|---|---|---|---|---|
| Histone Methyltransferases | KMT2F (SET1A) | Association with Schizophrenia and neurodevelopmental disorders | ||
| KMT2A (MLL1) | Wiedemann-Steiner syndrome and Leukemia Myeloid | 2 | S | |
| KMT2D (MLL2) | Kabuki syndrome 1 | |||
| KMT2C (MLL3) | Kleefstra syndrome | 2 | ||
| KMT2B (MLL4) | Dystonia | |||
| Histone Demethylase | KDM6A (UTX) | Kabuki syndrome 2 | ||
| ATP-Dependent Chromatin Remodelers - SWI/SNF | SMARCA1 (SNF2L1) | Schizophrenia, Microcephaly with intellectual disability, Rett-like phenotypes | ||
| SMARCA2 (BRM) | Nicolaides-Baraitser syndrome and Schizophrenia | S | S | |
| SMARCA4 (BRG1) | Coffin-Siris syndrome 4 and Rhabdoid Tumor Predisposition syndrome 2 | |||
| SMARCB1 (SNF5) | Coffin-Siris syndrome 3, somatic Rhabdoid tumors, Rhabdoid Predisposition syndrome 1, and susceptibility to Schwannomatosis-1 | |||
| SMARCE1 (BAF57) | Coffin-Siris syndrome 5, susceptibility to familial Meningioma | |||
| ARID1A (BAF250A) | Coffin-Siris syndrome 2 | |||
| ARID1B (BAF250B) | Coffin-Siris syndrome 1 | 1 | S | |
| ATP-Dependent Chromatin Remodelers - INO80 | YY1AP1 (YAP) | Grange syndrome | ||
| SRCAP (SWR1) | Floating-Harbor syndrome | 2 | ||
| ATP-Dependent Chromatin Remodelers - CHD | CHD1 | Pilarowski-Bjornsson syndrome | ||
| CHD2 | Childhood-onset Epileptic Encephalopathy | 2 | S | |
| CHD4 | Sifram-Hitz-Weiss syndrome | |||
| CHD7 | CHARGE syndrome | S | S | |
| CHD8 | Autism Spectrum Disorder | 1 | S |