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| Childhood onset dystonia, chorea or related movement disorder v3.50 | SPATA5L1 | Achchuthan Shanmugasundram commented on gene: SPATA5L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.48 | SPATA5L1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.11 | SPATA5L1 | Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.10 | SPATA5L1 | Eleanor Williams Tag Q1_22_rating was removed from gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.10 | SPATA5L1 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.10 | SPATA5L1 | Eleanor Williams reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.8 | SPATA5L1 |
Eleanor Williams Source Expert Review Green was added to SPATA5L1. Source NHS GMS was added to SPATA5L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset dystonia, chorea or related movement disorder v1.210 | SPATA5L1 | Ivone Leong Entity copied from Intellectual disability v3.1495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.210 | SPATA5L1 |
Ivone Leong gene: SPATA5L1 was added gene: SPATA5L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: SPATA5L1. Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 |
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