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Genetic epilepsy syndromes

Gene: RELN

Green List (high evidence)

RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 18 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Lissencephaly 2 and AD familial temporal lobe epilepsy 7 (ETL7). AR Lissencephaly - Hong et al 2000 - 2 consang families (British and Saudi Arabian) - aff family members were found to have had hom RELN variants. Zaki et al 2007 - consang Egyptian marriage - hom apparantly balanced reciprocal translocation in 2 aff sibs - disrupts the RELN gene. All affecteds had seizures. ETL7 - charecterised by focal seizures. Dazzo et al, 2015 - 7 unrelated families of Italian descent - 7 diff het variants. Functional studies not performed but 3D modelling predicts mutations would result in structural defects and protein misfolding which could lead to degredation of the altered proteins. Aff individuals from 4 families had reduced up to 50%) serum levels of the main 310-kD reelin isform compared to controls - poss due to impaired secretion of the altered proteins from hepatocytes. On HGMD Pro - other associations include Hypogonadotrophic hypogonadism and Autism spectrum disorder. Obvioulsy assoc with seizures, but not the case for all variants.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 2 (Norman-Roberts type), 257320; {Epilepsy, familial temporal lobe, 7}, 616436

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: Updated MOI from monoallelic to 'BOTH monoallelic and biallelic' based on papers reporting seizures as part of AR lissencephaly phenotype: PMID:17431900 (Zaki et al 2007) and PMID:10973257 (Hong et al, 2000).
Created: 11 Jul 2019, 8:58 a.m. | Last Modified: 11 Jul 2019, 8:58 a.m.
Panel Version: 1.153

Sarah Leigh (Genomics England Curator)

Associated with {Epilepsy, familial temporal lobe, 7} 616436 in OMIM and not in Gen2Phen. At least 4 missense variants identified in unrelated families.
Created: 23 Jul 2018, 1:56 p.m.
Comment on phenotypes: Biallelic variants are associated with Lissencephaly 2 (Norman-Roberts type) 257320
Created: 23 Jul 2018, 1:49 p.m.
Comment on mode of inheritance: Biallelic variants are associated with Lissencephaly 2 (Norman-Roberts type) 257320.
Created: 23 Jul 2018, 1:47 p.m.

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RELN.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RELN.

11 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: RELN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on mode of inheritance

23 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: reln has been classified as Green List (High Evidence).

23 Jul 2018, Gel status: 2

Removed Source, Added New Source, Set penetrance, Set penetrance

Sarah Leigh (Genomics England Curator)

Source Victorian Clinical Genetics Services was removed from RELN. Panel: Genetic Epilepsy Syndromes Literature was added to RELN. Panel: Genetic Epilepsy Syndromes Phenotypes for gene RELN were set to {Epilepsy, familial temporal lobe, 7} 616436 Penetrance for gene RELN was set to Incomplete

23 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RELN were set to {Epilepsy, familial temporal lobe, 7} 616436

23 Jul 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: RELN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RELN were set to 26046367

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to RELN. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RELN was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RELN was created by Sarah Leigh