Table 1:
Rett/Angelman-like genes
| Gene | MECP2 | UBE3A | CDKL5 | FOXG1 | SLC9A6 | TCF4 |
|---|---|---|---|---|---|---|
| MIM# | 300005 | 601623 | 300203 | 164874 | 300231 | 602272 |
| Transcript | NM_004992.3 | NM_130838.2 | NM_001323289.2 | NM_005249.4 | NM_006359.2 | NM_001083962.1 |
| Disorder | Rett syndrome; Variant Rett syndrome; others | Angelman syndrome | Early infantile epileptic encephalopathy-2 | FOXG1 syndrome | Christianson syndrome | Pitt-Hopkins syndrome |
| Inheritance | XL (dominant) | AD on the maternally-derived allele | XL (dominant) | AD | XL | AD |
| Frequency | 1:10,000–1:23,000 female births (PMID 20301670) | 1:12,000–24,000 (PMID 20301323) | 1:40,000–60,000 (PMID 32079229) | Unknown | 1:16,000 and 1:100,000 (PMID 29334451) | Unknown, but estimated at 1:34,000–1:41,000 (PMID 22934316) |
| Penetrance | Full | Full | Full | Full | Full for males, possibly partial for females | Full |
**
MIM: Mental retardation, X-linked syndromic, Christianson type