Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: RELN

Green List (high evidence)

RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 11 panels

3 reviews

Ee Ming Wong (Victorian Clinical Genetics Services)

I don't know

- Six affected individuals carrying missense variants in RELN including
1. Two individuals with compound heterozygous variants
- One of the variants has 26 homozygotes in gnomAD and therefore pathogenicity of this variant is in question
- LoF demonstrated for three of the variants (reduced RELN secretion), except for p.Y1821H which demonstrated an apparently increased RELN secretion (GoF)
2. Two brothers carrying the maternally inherited variant (mother apparently healthy)
- LoF demonstrated for these variants
3. Two individuals de novo for RELN variants
- Dominant negative demonstrated for these variants where secretion of WT-RELN was impaired when co-transfected with mutant constructs in HEK293T cells
Created: 15 Jun 2021, 12:29 a.m. | Last Modified: 15 Jun 2021, 12:29 a.m.
Panel Version: 0.7986
- Two families and two individuals without a family history carrying RELN missense variants
- Three unaffected individuals from one family also carried the variant, leading the authors to suggest potential incomplete penetrance.
Created: 7 Jun 2021, 6:59 a.m. | Last Modified: 7 Jun 2021, 6:59 a.m.
Panel Version: 0.7891

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pachygyria; Polymicrogyria; Heterotopia

Publications

  • Riva et al bioRxiv (pre-print, not peer-reviewed)

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile. Additional 7 individuals from 4 families with bi-allelic variants.
Created: 14 Jul 2022, 12:34 a.m. | Last Modified: 14 Jul 2022, 12:34 a.m.
Panel Version: 1.119
Well established gene-disease association with bi-allelic variants and lissencephaly. Mono-allelic variants linked to epilepsy.
Created: 3 Aug 2020, 7:26 a.m. | Last Modified: 3 Aug 2020, 7:29 a.m.
Panel Version: 0.3662

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Chern Lim (Victorian Clinical Genetics Services)

I don't know

A heterozygous missense variant segregated with ankylosing spondylitis in a large consanguineous Iranian family (PMID: 32001840).
Created: 3 Aug 2020, 6:26 a.m. | Last Modified: 3 Aug 2020, 6:26 a.m.
Panel Version: 0.3657

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ankylosing spondylitis

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), MIM# 257320
  • {Epilepsy, familial temporal lobe, 7}, MIM# 616436
  • ankylosing spondylitis
OMIM
600514
Clinvar variants
Variants in RELN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RELN were set to 32001840

3 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; {Epilepsy, familial temporal lobe, 7}, MIM# 616436; ankylosing spondylitis

3 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis

3 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RELN were set to

3 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RELN was added gene: RELN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RELN was set to Unknown