Malformations of cortical development
Gene: RELN
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
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.
Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320;Type 2 lissencephaly and cerebellar hypoplasia
This gene has been classified as Green List (High Evidence).
RELN was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Promoted to Version 1 on 22nd November 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for RELN were set to 10973257; 7682675
Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320
Phenotypes for RELN were set to Lissencephaly 2 (Norman-Roberts type) 257320
RELN was added to Malformations of cortical developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
RELN was created by sleigh
RELN was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory