Activity
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4 actions
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| Childhood onset dystonia, chorea or related movement disorder v7.4 | TNR |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Movement disorders (dystonia (8/14), choreoathetosis (3/14)) were reported in several individuals with biallelic variants in this gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Movement disorders such as dystonia (8/14) and choreoathetosis (3/14) were reported in several individuals with biallelic variants in this gene. |
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| Childhood onset dystonia, chorea or related movement disorder v7.4 | TNR |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - at least 7 unrelated cases with cognitive impairment associated with variants in this gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Movement disorders (dystonia (8/14), choreoathetosis (3/14)) were reported in several individuals with biallelic variants in this gene. |
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| Childhood onset dystonia, chorea or related movement disorder v7.4 | TNR | Arina Puzriakova Entity copied from Intellectual disability v9.92 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.4 | TNR |
Arina Puzriakova gene: TNR was added gene: TNR was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Expert list,Expert Review Amber Q3_25_promote_green tags were added to gene: TNR. Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNR were set to 28334938; 32099069 Phenotypes for gene: TNR were set to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653 |
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