Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 4 variants reported in 3 casesCreated: 16 Mar 2017, 11:54 a.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
-
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- COVID-19 research
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Cerebral vascular malformations
- Malformations of cortical development
- Early onset or syndromic epilepsy
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
16 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for OCLN were set to 20727516
16 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Sep 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)OCLN was added to Structural basal ganglia disorderspanel. Source: UKGTN
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)OCLN was created by sleigh
7 Sep 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)OCLN was added to Structural basal ganglia disorderspanel. Sources: Radboud University Medical Center, Nijmegen