Malformations of cortical development
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
1 review
Alice Gardham (Genomics England)
Not recognised on G2P but on UKGTN and mutations identified in six different familiesCreated: 19 Dec 2016, 12:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria 251290
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Band-like calcification with simplified gyration and polymicrogyria 251290
- OMIM
- 602876
- Clinvar variants
- Variants in OCLN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Cerebral vascular malformations
- Malformations of cortical development
History Filter Activity
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 0
Created
Alice Gardham (Genomics England)OCLN was created by agardham
19 Dec 2016, Gel status: 2
Added New Source
Alice Gardham (Genomics England)OCLN was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen