Early onset dystonia
Gene: AFG3L2Comment 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.Created: 23 Oct 2023, 3:43 p.m. | Last Modified: 23 Oct 2023, 3:43 p.m.
Panel Version: 1.138
Caporali, et al. (2020, PMID: 32219868) analyzed 286 optic atrophy patients. The AFG3L2 c.1901_1902delCT (p.Ser634*) variant has been found in trans with c.916A>G (p.Lys306Glu) variant in one male patient (18 years of age) with dystonia and additional clinical features. The heterozygous AFG3L2 c.1064C>T (p.Thr355Met) variant has been found in one female patient (19 years of age) who had dystonia and additional clinical features.
- Please note that all 3 variants were absent from gnomAD v2.1.1 as of December 2021Created: 5 Dec 2021, 6:08 a.m. | Last Modified: 5 Dec 2021, 6:08 a.m.
Panel Version: 1.99
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Gene: afg3l2 has been classified as Green List (High Evidence).
Phenotypes for gene: AFG3L2 were changed from Dystonia to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
AFG3L2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory