Rubinstein-Taybi syndrome (16p13.3 deletion)

Rubinstein-Taybi syndrome (16p13.3 deletion)

Broad thumbs/toes, characteristic facies, short stature, moderate-severe ID. CREBBP haploinsufficiency. ~1:125,000.

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

chr16pqDEL16p13.3250 kb3.7M4.0Mp12.3p11.2q11.2q12.1q21q22.1q23.1
CREBBPTRAP1
pHI ≥ 0.86 ≥ 0.5 ≥ 0.2 < 0.2 / n/a key gene

Gene content — colored by haploinsufficiency (pHI)

chr16:3,700,000-3,950,000250.0 kb2 coding genesDeletion
UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

2 genes · sorted by haploinsufficiency (pHI)

GenepHI Resources
CREBBPkey
fully contained		—
GeneOMIM
TRAP1
- strand		—
GeneOMIM
Input: “Rubinstein-Taybi” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38