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Neurogenetics Portal
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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
SYNGAP1 haploinsufficiency was first reported as a cause of non-syndromic intellectual disability in 2009. SynGAP is a Ras/Rap GTPase-activating protein localised at excitatory synapses; loss of one copy impairs long-term potentiation and causes intellectual disability, epilepsy, and autism. It is now recognised as one of the most frequently mutated genes in sporadic neurodevelopmental disorders.
Hamdan FF et al. — N Engl J Med, 2009Variant Interpretation Tip of the Day
Non-canonical splice variants (±3 to ±6, or exonic variants near splice sites) may disrupt splicing but require additional evidence — typically SpliceAI score, RNA studies, or mini…
Clinical Pearl
RNA studies from patient-derived tissue (lymphocytes, fibroblasts) are the gold standard for confirming splice disruption. Abnormal RNA with loss of the expected transcript is strong evidence supporting PS3 and potentially upgrading PVS1 strength.
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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
Cav2.3 R-type channel · Severe epileptic encephalopathy with hyperkinesis
GluN2B NMDA subunit · Epileptic encephalopathy, ASD, intellectual disability
Nav1.4 skeletal muscle channel · Episodic weakness and myotonia
Kv10.1 EAG channel · Intellectual disability, epilepsy, dysmorphic features
GluA3 AMPA receptor subunit · X-linked ID, epilepsy, language delay
GATOR1 complex subunit · Familial focal epilepsy, focal cortical dysplasia
Kv2.1 delayed-rectifier · Infantile spasms, hypotonia, developmental delay
Cav3.2 T-type channel · Absence epilepsy, febrile seizures, DEE
Ataxin-3 deubiquitinase · Most common SCA worldwide, dystonia, neuropathy
Nav β2 auxiliary subunit · Cardiac and neurological channelopathy
SWI/SNF chromatin remodelling · Coffin-Siris, schwannomatosis, malignant rhabdoid tumour
GABAₐ α2 subunit · Epileptic encephalopathy, intellectual disability, alcohol sensitivity