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Neurogenetics Portal
From variant to verdict, in one search
Accepted formats
SCN8A — gene
rs121918622 — rsID
SCN1A:c.1129C>T — HGVS c.
SCN1A:p.Arg377Ter — HGVS p.
2-166179712-G-C — gnomAD
epileptic encephalopathy — phenotype
Neurogenetics Factoid of the Day
SCN1A was the first gene linked to Dravet syndrome, identified in 2001 by Claes et al. after sequencing seven patients with severe myoclonic epilepsy of infancy. Loss-of-function mutations reduce Nav1.1 expression in inhibitory interneurons, causing runaway excitation across the cortex.
Claes L et al. — Am J Hum Genet, 2001Variant Interpretation Tip of the Day
PS2 (pathogenic strong) applies to variants confirmed de novo — with verified parentage — in a patient with the expected phenotype and no family history. PS2 requires trio testing …
Clinical Pearl
The difference between PS2 and PM6 is 2 Bayesian points under the Tavtigian framework — it can be the difference between LP and VUS, making trio testing a high-yield clinical action when a de novo mechanism is suspected.
Daily Board Question
How to Use This Portal
Learn & Practice
Worked ACMG examples, Variant Tinder, Duck Hunt, test report reading, and the Epilepsy Genetics module
Key Neurogenetics Genes
3 genes rotate every 8 hours · from a pool of 140Curated selection of genes with established roles in neurological and neurodevelopmental disorders
GATOR1 complex subunit · Familial focal epilepsy, focal cortical dysplasia
Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain
Protocadherin 19 · X-linked clustering epilepsy in females
Phosphatase tumour suppressor · Macrocephaly, autism, hamartomas, epilepsy
Neurexin 1 presynaptic organiser · ASD, schizophrenia, intellectual disability
GluA3 AMPA receptor subunit · X-linked ID, epilepsy, language delay
GluA2 AMPA receptor subunit · Epileptic encephalopathy, ASD, intellectual disability
Histone acetyltransferase · Intellectual disability, speech delay, cardiac defects
Histone H3K4 methyltransferase · Intellectual disability, short stature, hypertrichosis
Kv1.1 voltage-gated channel · Episodic ataxia, myokymia, neuromyotonia, epilepsy
HCN2 pacemaker channel · Generalised epilepsy, febrile seizures
Proline-rich transmembrane protein 2 · Paroxysmal movement disorders