This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Band-like calcification with simplified gyration and polymicrogyria 251290
- OMIM
- 602876
- Clinvar variants
- Variants in OCLN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- COVID-19 research
- Intellectual disability
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Cerebral vascular malformations
- Malformations of cortical development
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
Eleanor Williams (Genomics England Curator)gene: OCLN was added gene: OCLN was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 20727516 Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290