RELN Chromosome 7

Reelin
404 variants 404 Health Risk

Upload your DNA to see your personal genotypes for variants in RELN.

What This Gene Does
This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Associated Conditions (15)
Norman-Roberts syndrome
Familial temporal lobe epilepsy 7
Epilepsy
familial temporal lobe
1
Inborn genetic diseases
RELN-related disorder
Self-limited epilepsy with centrotemporal spikes
Intellectual disability
See cases
Neurodevelopmental delay
Seizure
Lissencephaly
Familial cancer of breast
9 conditions
Key Variants
RS113498433
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS113998363
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS114190729
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
Health Risk
RS114344654
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS114389730
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS114446781
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS114501042
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, RELN-related disorder
Health Risk
RS114577182
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
Health Risk
RS114620008
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS114620403
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
Health Risk
RS114647348
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, RELN-related disorder
Health Risk
RS114993407
Conflicting classifications of pathogenicity
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
Health Risk
All Variants (404)
RSID Category Clinical Significance Conditions
RS1562961475 Health Risk Pathogenic —
RS1584326318 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1829533362 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1830150596 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1830401647 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1831543477 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1831725857 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1832583187 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1832979860 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2116670615 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2117021067 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117139699 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117170464 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2117188195 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117189408 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117204949 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117205170 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117208388 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117248586 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117254954 Health Risk Pathogenic —
RS2117255208 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117348851 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484702780 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2484704178 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484714900 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484733750 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484733902 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484740883 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484741062 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484750954 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484793892 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2484794385 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484798416 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484803145 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484917661 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2484996309 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2485111204 Health Risk Pathogenic —
RS2485717743 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS368992119 Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS369993428 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS587780435 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS587780436 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS587780437 Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS750279128 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS751409835 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS760019076 Health Risk Pathogenic 9 conditions, 9 conditions
RS794727996 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794727997 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794727998 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794727999 Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
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