Xq28 duplication syndrome

Severe intellectual disability in males, recurrent infections (50%), progressive spasticity, epilepsy, and absent speech. MECP2 overexpression is pathogenic; carrier females usually unaffected.

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

pTS ≥ 0.86 ≥ 0.5 ≥ 0.2 < 0.2 / n/a key gene

Gene content — colored by triplosensitivity (pTS)

chrX:153,500,000-154,187,103687.1 kb24 coding genesDuplication

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

24 genes · sorted by triplosensitivity (pTS)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
MECP2key fully contained	—	—	—	—	—	Gene OMIM
L1CAMkey fully contained	—	—	—	—	—	Gene OMIM
IRAK1key fully contained	—	—	—	—	—	Gene OMIM
OPN1LW fully contained	—	—	—	—	—	Gene OMIM
TMEM187 fully contained	—	—	—	—	—	Gene OMIM
RENBP fully contained	—	—	—	—	—	Gene OMIM
NAA10 fully contained	—	—	—	—	—	Gene OMIM

Input: “MECP2 duplication” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38