Activity
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11 actions
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| Adult onset dystonia, chorea or related movement disorder v1.108 | TAF1 | Arina Puzriakova Phenotypes for gene: TAF1 were changed from Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) to Dystonia-Parkinsonism, X-linked, OMIM:314250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.91 | TAF1 | Louise Daugherty commented on gene: TAF1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | TAF1 | Louise Daugherty commented on gene: TAF1: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | TAF1 | James Polke reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | TAF1 | Louise Daugherty Source London North GLH was added to TAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | TAF1 | Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | TAF1 | Emily Jones reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12928496, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26637982, 26879577, 26637982, 17668393, 17273961, 12928496, 17273961, 23184149, 2368812, 20301662, 26769797; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | TAF1 |
Louise Daugherty Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1 Publications for gene TAF1 were changed from 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 to 26637982; 23184149; 17668393; 17273961; 26769797; 2368812; 20301662; 26879577; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12928496 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | TAF1 | Louise Daugherty Source NHS GMS was added to TAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | TAF1 | Louise Daugherty Source South West GLH was added to TAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | TAF1 |
Ellen McDonagh gene: TAF1 was added gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments |
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