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| Dystonia - complex v0.217 | AFG3L2 | Zornitza Stark Publications for gene: AFG3L2 were set to 22964162; 16541453; 32219868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.216 | AFG3L2 | Zornitza Stark Classified gene: AFG3L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.216 | AFG3L2 | Zornitza Stark Gene: afg3l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.215 | AFG3L2 | Shekeeb Mohammad reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36110148; Phenotypes: dystonia, parkinsonism, intellectual disability, optic hypoplasia, dementia, cognitive decline; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.204 | AFG3L2 | Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive MIM#614487 to Spastic ataxia 5, autosomal recessive MIM#614487; Early-onset dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.203 | AFG3L2 | Zornitza Stark Publications for gene: AFG3L2 were set to 22964162; 16541453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.202 | AFG3L2 | Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.201 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 32219868; Phenotypes: Early-onset dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | AFG3L2 | Zornitza Stark Marked gene: AFG3L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | AFG3L2 | Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.13 | AFG3L2 |
Bryony Thompson gene: AFG3L2 was added gene: AFG3L2 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 22964162; 16541453 Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487 Review for gene: AFG3L2 was set to RED Added comment: Dystonia is not a prominent feature of this condition. There is a single family reported with complex dystonia. Dystonia was previously observed in a family whose affected members carried an 18p chromosomal deletion that included AFG3L2. Sources: Expert list |
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