Activity
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11 actions
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| Dystonia, chorea or related movement disorder, childhood onset v2.10 | TOR1A | Eleanor Williams Tag Q1_22_MOI was removed from gene: TOR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v2.10 | TOR1A | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v2.10 | TOR1A | Eleanor Williams commented on gene: TOR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v2.8 | TOR1A | Eleanor Williams Mode of inheritance for gene TOR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.220 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 to Dystonia-1, torsion, OMIM:128100; Arthrogryposis multiplex congenita 5, OMIM:618947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.219 | TOR1A | Arina Puzriakova Publications for gene: TOR1A were set to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.218 | TOR1A | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: TOR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.218 | TOR1A | Arina Puzriakova reviewed gene: TOR1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-1, torsion, OMIM:128100, Arthrogryposis multiplex congenita 5, OMIM:618947; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v1.77 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, childhood onset v0.7 | TOR1A |
Ellen McDonagh Source PanelApp was added to TOR1A. Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 for gene: TOR1A Publications for gene TOR1A were changed from to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570 |
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| Dystonia, chorea or related movement disorder, childhood onset v0.0 | TOR1A |
Ellen McDonagh gene: TOR1A was added gene: TOR1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TOR1A was set to |
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