Childhood onset dystonia, chorea or related movement disorder
Gene: OCLN
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
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
Removed from adult onset panelCreated: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Tag Q3_23_expert_review tag was added to gene: OCLN. Tag Q3_23_demote_red tag was added to gene: OCLN.
Gene: ocln has been classified as Green List (High Evidence).
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
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
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