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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
PP3 (supporting pathogenic) covers computational evidence — in silico tools like CADD, REVEL, AlphaMissense, SpliceAI. Crucially, PP3 counts as ONE supporting criterion regardless …
Clinical Pearl
Pejaver et al. (2022) calibrated specific score thresholds for PP3/BP4: REVEL ≥ 0.75 for PP3, < 0.15 for BP4; CADD ≥ 20 for PP3. AlphaMissense ≥ 0.564 is concordant with PP3 based on its independent validation performance.
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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
hERG channel · Cardiac arrhythmia and sudden death risk
Kv2.1 delayed-rectifier · Infantile spasms, hypotonia, developmental delay
Forkhead box G1 transcription factor · Severe neurodevelopmental disorder
Kir6.2 ATP-sensitive potassium channel · Neonatal diabetes, developmental delay, epilepsy
Nav β2 auxiliary subunit · Cardiac and neurological channelopathy
Protocadherin 19 · X-linked clustering epilepsy in females
E-protein transcription factor 4 · Intellectual disability, breathing abnormalities
Ataxin-2 CAG repeat · Cerebellar ataxia, slow saccades, ALS risk factor
Succinyl-CoA ligase α subunit · Severe early-onset encephalomyopathy
Complex I 51kDa flavoprotein · Mitochondrial encephalomyopathy, white matter disease
Cav3.1 T-type channel · Cerebellar atrophy, epilepsy, intellectual disability
GABAₐ β3 subunit · Severe epileptic encephalopathy, infantile spasms