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PROBABLY GENETIC
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Week of Jun 15, 2026
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VARIANT ALERT
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SNX27
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Severe myoclonic epilepsy in infancy
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OMIM submitted their first-ever P/LP variant for SNX27 — they have 37,671 submissions across other genes.
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New Submissions
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OMIM · See cases
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Pathogenic
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OMIM · See cases
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Pathogenic
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OMIM · DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
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Pathogenic
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OMIM · DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
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Pathogenic
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OMIM · DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
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Pathogenic
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OMIM · DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
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Pathogenic
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Key Opinion Leaders
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Michael A Sutton, MD
Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
3 publications on SNX27
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Contact
PubMed
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Lois S Weisman, MD
Life Sciences Institute, University of Michigan , Ann Arbor, MI, USA.
3 publications on SNX27
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Contact
PubMed
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Jun Sun, MD
Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois Chicago, Chicago, Illinois; University of Illinois…
2 publications on SNX27
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Contact
PubMed
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Lauren P Jackson, MD
Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.
2 publications on SNX27
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PubMed
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Pero Lučin, MD
Department of Physiology, Immunology and Pathophysiology, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
2 publications on SNX27
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PubMed
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Top Submitting Labs
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1
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Labcorp Genetics (formerly Invitae), Labcorp
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16
P/LP
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3
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Genetics Laboratory, UDIAT-Centre Diagnòstic,
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2
P/LP
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4
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CeGaT Center for Human Genetics Tuebingen
Tuebingen, Germany
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1
P/LP
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Recent Publications
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Qian W, Zhang L, Cheng X et al. — Glia · 2026-06
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Wang S, Zhang D, Zhang L — Microbiol Spectr · 2026-05
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Xiao H, Sun L, Qin X et al. — Noise Health · 2026-05
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Kim YJ, Lee C, Seo SK et al. — Nat Commun · 2026-04
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Chen KE, Tillu VA, Ariotti N et al. — Methods Enzymol · 2026-03
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Active Clinical Trials
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Bright Minds Biosciences Pty Ltd · Phase 2
PI: Terence O'Brien, MD · The Alfred
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Recruiting
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RTI International
PI: Don Bailey, PhD · RTI International
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Enrolling By Invitation
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Assistance Publique - Hôpitaux de Paris
PI: Blandine DOZIERES, Dr · Hopital Robert Debré - Assistance Publique Hopitaux de Paris
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Recruiting
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Hospices Civils de Lyon · NA
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Recruiting
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Patient Advocacy
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NORD (National Organization for Rare Disorders)
Master directory — search for the specific disease to find affiliated patient orgs and registries.
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Classification Breakdown
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P 4.1%
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LP 0.8%
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VUS 43.1%
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B/LB 52.0%
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