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RAI1
HGNC ↗2 article(s) in the watch · Constitutional genetics
RAI1 is the major gene of Smith-Magenis syndrome (deletion or loss-of-function variant); its duplication causes Potocki-Lupski syndrome. These neurodevelopmental disorders illustrate the dosage sensitivity of the 17p11.2 region.
Curated publications
7/10
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.
Potocki-Lupski syndrome (17p11.2 duplication)
Gén.27 May 2026
6/10Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome
Smith-Magenis syndrome (17p11.2 deletion or RAI1 variants)
Gén.27 May 2026
Frequently asked questions
How many Geno'X publications cover the RAI1 gene?+
2 publication(s) on RAI1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
