| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Childhood onset dystonia, chorea or related movement disorder v4.3 | OCLN |
Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: OCLN. Tag Q3_23_demote_red was removed from gene: OCLN. |
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| Childhood onset dystonia, chorea or related movement disorder v4.3 | OCLN | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated from green toredfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated from green to red following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.3 | OCLN | Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.2 | OCLN |
Achchuthan Shanmugasundram 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) |
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| Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN |
Sarah Leigh Tag Q3_23_expert_review tag was added to gene: OCLN. Tag Q3_23_demote_red tag was added to gene: OCLN. |
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| Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh edited their review of gene: OCLN: Added comment: 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).; Changed rating: RED; Changed publications to: 20727516, 34704946, 34573918, 28386946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh Classified gene: OCLN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.43 | OCLN | Sarah Leigh Gene: ocln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.49 | OCLN | Zornitza Stark reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 1, MIM# 251290; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.113 | OCLN | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | OCLN |
Ellen McDonagh 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 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | OCLN |
Ellen McDonagh 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 |
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