1p36 deletion syndrome

Intellectual disability, seizures, cardiomyopathy, hearing loss, and distinctive facies with straight eyebrows. Most common terminal deletion syndrome (~1:5,000-10,000).

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)

chr1:100,000-6,151,1936.05 Mb80 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

80 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
SKIkey fully contained	—	—	—	—	—	Gene OMIM
GABRDkey fully contained	—	—	—	—	—	Gene OMIM
MMP23Bkey fully contained	—	—	—	—	—	Gene OMIM
KCNAB2key fully contained	—	—	—	—	—	Gene OMIM
PRDM16 fully contained	—	—	—	—	—	Gene OMIM
PLCH2 fully contained	—	—	—	—	—	Gene OMIM
MMEL1 fully contained	—	—	—	—	—	Gene OMIM

Input: “1p36 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38