White matter disorders and cerebral calcification - 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 Red
- Phenotypes
-
- Lissencephaly, Recessive
- Lissencephaly 2
- Lissencephaly 2 (Norman-Roberts type), 257320
- OMIM
- 600514
- Clinvar variants
- Variants in RELN
- Penetrance
- None
- Panels with this gene
-
- Malformations of cortical development
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Cerebral vascular malformations
- Inherited white matter disorders
- Hereditary ataxia
- Fetal anomalies
- Familial Hirschsprung Disease
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, childhood onset
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
History Filter Activity
8 Jan 2019, Gel status: 1
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: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RELN was added gene: RELN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to Lissencephaly, Recessive; Lissencephaly 2; Lissencephaly 2 (Norman-Roberts type), 257320