White matter disorders and cerebral calcification - narrow panel
Gene: OCLN
OCLN (occludin)
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Severe developmental delay with microcephaly
- Band-like calcification with simplified gyration and polymicrogyria
- Band-like calcification with simplified gyration and polymicrogyria, 251290
- OMIM
- 602876
- Clinvar variants
- Variants in OCLN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- COVID-19 research
- Cerebral vascular malformations
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
History Filter Activity
8 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: OCLN was added gene: OCLN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 24668585; 26689621; 23793442; 20727516 Phenotypes for gene: OCLN were set to Severe developmental delay with microcephaly; Band-like calcification with simplified gyration and polymicrogyria; Band-like calcification with simplified gyration and polymicrogyria, 251290