Cerebellar hypoplasia
Gene: RELN
RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels
1 review
Alice Gardham (Genomics England)
Offered on GOSH PCH panel. Lissencephaly with cerebellar abnormalitiesCreated: 14 Nov 2016, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2, 257320
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Emory Genetics Laboratory
- Phenotypes
-
- Lissencephaly 2, 257320
- OMIM
- 600514
- Clinvar variants
- Variants in RELN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Malformations of cortical development
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Cerebellar hypoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cerebral vascular malformations
- Inherited white matter disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Familial Hirschsprung Disease
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
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