| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset dystonia v1.138 | AFG3L2 | Arina Puzriakova Classified gene: AFG3L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.138 | AFG3L2 |
Arina Puzriakova Added comment: Comment on list classification: Associated with AR and AD ataxia. Dystonia can be a feature but is not typically prominent. Mean age of onset is adulthood, but has been reported in juveniles. More appropriate on ataxia panels. However, is rated as green on equivalent GMS panels and therefore upgrading the rating from red to green on this 100K panel. |
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| Early onset dystonia v1.138 | AFG3L2 | Arina Puzriakova Gene: afg3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.137 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Dystonia to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.136 | AFG3L2 | Arina Puzriakova Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset dystonia v1.99 | AFG3L2 | Eldar Dedic reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32219868; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||