Previous symbols: TAF2A, BA2R, CCG1, CCGS, DYT3. Aliases: NSCL2, TAFII250, KAT4, DYT3/TAF1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Intellectual Disability, X-linked, Syndromic 33 | causative |
mechanism: TAF1 Hypomorphic Missense Variants; TAF1 Locus Duplication
|
| X-linked Dystonia-Parkinsonism | untyped |
mechanism: SVA retrotransposon insertion in TAF1
diagnosis: Clinical suspicion with molecular confirmation of the XDP haplotype
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.