Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lissencephaly 2, 257320
- OMIM
- 600514
- Clinvar variants
- Variants in RELN
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Cerebellar hypoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Cerebral vascular malformations
- Malformations of cortical development
- Inherited white matter disorders
- Hereditary ataxia
- Familial Hirschsprung Disease
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary ataxia, adult onset
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RELN was added gene: RELN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RELN were set to 10973257 Phenotypes for gene: RELN were set to Lissencephaly 2, 257320