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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
SHANK3 haploinsufficiency causes Phelan-McDermid syndrome (22q13.3 deletion syndrome), characterised by neonatal hypotonia, absent or severely delayed speech, autism, and often epilepsy. SHANK3 encodes a postsynaptic density scaffolding protein; mice lacking one Shank3 copy show social deficits that are partially reversible with IGF-1 or rapamycin — fuelling ongoing clinical trials in humans.
Durand CM et al. — Nat Genet, 2007Variant Interpretation Tip of the Day
Synonymous variants are commonly classified as benign (BP7) but can alter splicing by disrupting exonic splicing enhancer (ESE) sequences or creating new donor/acceptor sites. Alwa…
Clinical Pearl
The synonymous variant SMN1 c.840C>T (p.Phe280=) is pathogenic because it disrupts an ESE required for proper inclusion of exon 7 — a reminder that "synonymous = benign" is a dangerous assumption.
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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
Neurexin 1 presynaptic organiser · ASD, schizophrenia, intellectual disability
Aristaless homeobox protein · X-linked lissencephaly, DEE, intellectual disability
E-protein transcription factor 4 · Intellectual disability, breathing abnormalities
E3 ubiquitin ligase (imprinted) · Severe intellectual disability, seizures, happy demeanour
Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain
Hamartin TSC1 · Hamartomas, epilepsy, autism, renal angiomyolipoma
β-tubulin class III · Fibrosis of extraocular muscles, cortical dysplasia, neuropathy
Dystrophin structural protein · X-linked progressive myopathy, cardiomyopathy
Reelin extracellular matrix protein · Brain malformation, epilepsy, autism
Phosphatase tumour suppressor · Macrocephaly, autism, hamartomas, epilepsy
Glucose transporter 1 · Epilepsy, movement disorder, developmental delay
Slack (KNa1.1) channel · Sleep-related epilepsy, migrating focal seizures