Cerebral vascular malformations
Gene: OCLNEnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 12 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:56 a.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:56 a.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 602876
- Clinvar variants
- Variants in OCLN
- Penetrance
- Complete
- Panels with this gene
-
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Cerebral vascular malformations
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Fetal anomalies
- 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
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to OCLN.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OCLN.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OCLN was added to Cerebrovascular disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)OCLN was created by ellenmcdonagh