Malformations of cortical development
Gene: RELNEnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels
2 reviews
Usha Kini (Oxford Centre for Genomic Medicine)
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} 616436Created: 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
-
- White matter disorders and cerebral calcification - narrow panel
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Inherited white matter disorders
- Familial Hirschsprung Disease
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to Version 1 on 22nd November 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for RELN were set to 10973257; 7682675
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320
Added New Source
Sarah Leigh (Genomics England Curator)RELN was added to Malformations of cortical developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)RELN was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)RELN was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory