Cerebellar hypoplasia

Gene: RELN

Green List (high evidence)

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Offered on GOSH PCH panel. Lissencephaly with cerebellar abnormalities
Created: 14 Nov 2016, 10:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 2, 257320

Publications

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RELN was created by agardham

14 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

RELN was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Literature,Emory Genetics Laboratory,UKGTN