2q23.1 deletion syndrome

Severe intellectual disability, seizures, absent/limited speech, sleep disturbance, and behavioral problems resembling Angelman syndrome. MBD5 haploinsufficiency is the critical mechanism.

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

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

Gene content — colored by haploinsufficiency (pHI)

chr2:147,971,011-149,400,0001.43 Mb6 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

6 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
MBD5key fully contained	—	—	—	—	—	Gene OMIM
KIF5C fully contained	—	—	—	—	—	Gene OMIM
EPC2 fully contained	—	—	—	—	—	Gene OMIM
LYPD6B fully contained	—	—	—	—	—	Gene OMIM
ORC4 - strand	—	—	—	—	—	Gene OMIM
LYPD6 + strand	—	—	—	—	—	Gene OMIM

Input: “2q23.1 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38