RELN Chromosome 7
Reelin
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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 |
|---|---|---|---|
| RS794727678 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS794727768 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS797045916 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS886042201 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 |
| RS886061854 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS888620136 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS896069835 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Inborn genetic diseases |
| RS939943472 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS976170143 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases |
| RS978248682 | Health Risk | Conflicting classifications of pathogenicity | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1057517814 | Health Risk | Likely pathogenic | — |
| RS1057518108 | Health Risk | Likely pathogenic | — |
| RS1226957030 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1246873642 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1272217791 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Norman-Roberts syndrome |
| RS1487246488 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS1554404337 | Health Risk | Likely pathogenic | — |
| RS1554404338 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554453517 | Health Risk | Likely pathogenic | — |
| RS1586472959 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Norman-Roberts syndrome |
| RS1828624396 | Health Risk | Likely pathogenic | Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7 |
| RS1830201852 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS1830268919 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS1830269249 | Health Risk | Likely pathogenic | Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7 |
| RS1830562930 | Health Risk | Likely pathogenic | — |
| RS1830731482 | Health Risk | Likely pathogenic | — |
| RS1831540987 | Health Risk | Likely pathogenic | Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7 |
| RS1831726447 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS2115934615 | Health Risk | Likely pathogenic | — |
| RS2117126444 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2117168257 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2117350995 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2484703480 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2484721195 | Health Risk | Likely pathogenic | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 |
| RS2484741203 | Health Risk | Likely pathogenic | — |
| RS2484743002 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2484794449 | Health Risk | Likely pathogenic | — |
| RS2484800309 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2484802404 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2484833539 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS2485205855 | Health Risk | Likely pathogenic | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial cancer of breast |
| RS2485654139 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Norman-Roberts syndrome |
| RS2485689198 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Norman-Roberts syndrome |
| RS2485717851 | Health Risk | Likely pathogenic | RELN-related disorder, RELN-related disorder |
| RS786205657 | Health Risk | Likely pathogenic | — |
| RS982831716 | Health Risk | Likely pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1212988348 | Health Risk | Pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1305459936 | Health Risk | Pathogenic | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1554397852 | Health Risk | Pathogenic | — |
| RS1554404013 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |