Malformations of cortical development

Gene: RELN

Green List (high evidence)

RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels

2 reviews

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type 2 lissencephaly and cerebellar hypoplasia

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Only two homozygous variants reported to date.
Created: 22 Nov 2016, 12:11 p.m.
Comment on phenotypes: Also associated with {Epilepsy, familial temporal lobe, 7} 616436
Created: 22 Nov 2016, 10:37 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type) 257320
  • Type 2 lissencephaly and cerebellar hypoplasia
OMIM
600514
Clinvar variants
Variants in RELN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320;Type 2 lissencephaly and cerebellar hypoplasia

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

RELN was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

22 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Nov 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RELN were set to 10973257; 7682675

22 Nov 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320

22 Nov 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320

11 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

RELN was added to Malformations of cortical developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RELN was created by sleigh

11 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RELN was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory