ClinGen Knowledge Base | Clinical Genome Resource

RAI1

Name: RAI1
HGNC ID: HGNC:9834
Cytogenetic Location: 17p11.2
Haploinsufficiency: Sufficient Evidence
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

RAI1 - Smith-Magenis syndrome | MONDO:0008434

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	09/27/2018	View report

RAI1

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	09/11/2017	View report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	09/11/2017	View report

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.