Aliases: BR140.
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 |
|---|---|---|
| 3p- Syndrome | causative germline |
mechanism: Impaired BRPF1 Acetyltransferase Complex Assembly; Reduced BRPF1 Dosage; Reduced BRPF1-Complex Histone H3K23 Acetylation
|
| BRPF1-Related Intellectual Disability | causative germline loss of function |
mechanism: Heterozygous BRPF1 Loss-of-Function Variation
variant: NM_004634.3:c.1433G>A (p.Trp478Ter); NM_004634:c.556C>T (p.Gln186Ter); c.1052_1053del (p.Val351GlyfsTer8); c.1054G>C (p.Val352Leu); c.2420_2433del (p.Gln807LeufsTer27)
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| syndromic complex neurodevelopmental disorder MONDO:0800439 | AD | Definitive 2025-04-15 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.