RELN Chromosome 7

Reelin

404 variants 404 Health Risk

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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

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
RS113498433	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS113998363	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS114190729	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS114344654	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS114389730	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS114446781	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS114501042	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, RELN-related disorder
RS114577182	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS114620008	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS114620403	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS114647348	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, RELN-related disorder
RS114993407	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS115035120	Health Risk	Conflicting classifications of pathogenicity	Self-limited epilepsy with centrotemporal spikes, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS115549751	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS115577014	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS115831287	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS115913736	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, RELN-related disorder
RS116065504	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, RELN-related disorder
RS116225248	Health Risk	Conflicting classifications of pathogenicity	Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Epilepsy
RS116463039	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS116504075	Health Risk	Conflicting classifications of pathogenicity	Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Epilepsy
RS116634494	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Intellectual disability
RS116750302	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1190177632	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS1217511479	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS1242801984	Health Risk	Conflicting classifications of pathogenicity	RELN-related disorder, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1279589989	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1328965570	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1345247825	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS137965786	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS137974322	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS138576725	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, See cases
RS138598422	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS138694965	Health Risk	Conflicting classifications of pathogenicity	Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS138909076	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS139102992	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS139225791	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS139321058	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS139326865	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS139532757	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS139648092	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Self-limited epilepsy with centrotemporal spikes, Familial temporal lobe epilepsy 7
RS140090640	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS1402071263	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS140263617	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS140358876	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS140660860	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS140868852	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS141115137	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Epilepsy
RS141307064	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
RS141387255	Health Risk	Conflicting classifications of pathogenicity	Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome

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