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  3. OCLN
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Childhood onset dystonia, chorea or related movement disorder

Gene: OCLN

Red List (low evidence)
OCLN (occludin)
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 12 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated from green to red following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:17 p.m.
Panel Version: 4.3
Created: 4 May 2024, 6:04 p.m.
Last Modified: 4 May 2024, 6:17 p.m.
Panel version: 4.3

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

It would appear that there are no published reports of dystonia, chorea or related movement disorder in cases carrying OCLN variants (PMID:20727516;34704946;34573918;28386946).
Created: 22 Aug 2023, 1:07 p.m. | Last Modified: 22 Aug 2023, 1:07 p.m.
Panel Version: 3.43
Comment on list classification: To date, there are no reports of dystonia, chorea or other movement disorders associated with OCLN variants (PMID: 20727516;34704946;34573918;28386946). Therefore this gene should not be green on this panel.
Created: 22 Aug 2023, 1:04 p.m. | Last Modified: 22 Aug 2023, 1:04 p.m.
Panel Version: 3.43

Publications

Created: 22 Aug 2023, 1:04 p.m.
Last Modified: 22 Aug 2023, 1:04 p.m.
Panel version: 3.43

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Cannot find specific link to dystonia or movement disorders.
Created: 6 Sep 2020, 8:55 a.m. | Last Modified: 6 Sep 2020, 8:55 a.m.
Panel Version: 1.49

Phenotypes
Pseudo-TORCH syndrome 1, MIM# 251290

Created: 6 Sep 2020, 8:55 a.m.
Last Modified: 6 Sep 2020, 8:55 a.m.
Panel version: 1.49

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Removed from adult onset panel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

4 May 2024, Gel status: 1

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_expert_review was removed from gene: OCLN. Tag Q3_23_demote_red was removed from gene: OCLN.

4 May 2024, Gel status: 1

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to OCLN. Source NHS GMS was added to OCLN. Rating Changed from Green List (high evidence) to Red List (low evidence)

22 Aug 2023, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_expert_review tag was added to gene: OCLN. Tag Q3_23_demote_red tag was added to gene: OCLN.

22 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ocln has been classified as Green List (High Evidence).

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Band-like calcification with simplified gyration and polymicrogyria, 251290

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to OCLN. Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 for gene: OCLN Publications for gene OCLN were changed from to 20727516

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: OCLN was added gene: OCLN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: OCLN was set to