Real-time data from ClinVar · ClinGen · OMIM · DECIPHER and 8 more sources

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Neurogenetics Portal

From variant to verdict, in one search

or search by phenotype

Neurogenetics Factoid of the Day

Epigenetics

UBE3A encodes an E3 ubiquitin ligase whose paternal allele is silenced by genomic imprinting in neurons. Loss of the maternal copy causes Angelman syndrome — characterised by severe intellectual disability, absent speech, ataxia, and a characteristically happy affect. The mechanism of imprinting at the 15q11-13 locus has made Angelman syndrome a leading candidate for epigenetic unsilencing therapies including antisense oligonucleotides.

Kishino T et al. — Nat Genet, 1997

Variant Interpretation Tip of the Day

Splice Variants

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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How to Use This Portal

Look Up a Variant or Gene
rsID, HGVS, gene symbol & more
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Variant Tutor

Worked ACMG examples, Variant Tinder, Duck Hunt, Epilepsy Genetics module

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Sample Test Reports

12 worked neurogenetic scenarios — pathogenic, carrier, VUS, deletions, repeat expansions, mtDNA

Open report library

Key Neurogenetics Genes

3 genes rotate every 8 hours · from a pool of 140

Curated selection of genes with established roles in neurological and neurodevelopmental disorders

KCNQ5
DEE / Intellectual disability

Kv7.5 M-channel subunit · Epileptic encephalopathy, intellectual disability

SURF1
Leigh syndrome (COX-deficient)

COX assembly factor · Complex IV deficiency, most common Leigh syndrome cause

HEXA
Tay-Sachs disease

Hexosaminidase A α-subunit · GM2 gangliosidosis, cherry-red spot, neurodegeneration

GLRA1
Hyperekplexia (startle disease)

Glycine receptor α1 subunit · Exaggerated startle, neonatal apnoea and stiffness

ARID1B
Coffin-Siris syndrome 1

BAF complex subunit · Intellectual disability, absent fifth fingernail, coarse facies

SCN3A
Focal cortical dysplasia / DEE

Nav1.3 sodium channel · Developmental epilepsy and cortical dysplasia

HCN2
Generalised epilepsy

HCN2 pacemaker channel · Generalised epilepsy, febrile seizures

KCND2
DEE / Autism spectrum

Kv4.2 A-type channel · Neurodevelopmental disorder with epilepsy

CACNA1D
SANDD syndrome / DEE

Cav1.3 L-type channel · Sinoatrial node dysfunction, deafness, epilepsy

SCN9ANew
Erythromelalgia / CIP / PEPD

Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain

CACNA1GNew
Spinocerebellar ataxia 42 / DEE

Cav3.1 T-type channel · Cerebellar atrophy, epilepsy, intellectual disability

MT-TL1New
MELAS (maternal)

Mitochondrial tRNA-Leu(UUR) · Stroke-like episodes, myopathy (m.3243A>G)

Integrated Data Sources

DECIPHER
Rare disease variants & phenotypes
OMIM
Genotype-phenotype relationships
gnomAD
Population frequencies & constraint
ClinGen
Gene-disease validity & dosage
ClinVar
Variant clinical significance
Mastermind
Genomic variant literature search
Open Targets
Disease associations & evidence
Franklin/Genoox
AI-powered variant curation
PubMed
Clinical & research publications
ClinicalTrials
Active trials & emerging therapies
Research and educational use only. This portal aggregates publicly available genomic data for research and educational purposes. It is not intended for clinical diagnosis or treatment decisions. Always consult qualified clinical genetics professionals and refer to primary data sources for clinical interpretation.