Childhood onset dystonia, chorea or related movement disorder
Gene: AFG3L2Added the Q2_21_rating to make it clear that it is the rating of this gene that is being considered.Created: 6 Oct 2022, 3:44 p.m. | Last Modified: 6 Oct 2022, 3:44 p.m.
Panel Version: 1.261
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 5:32 p.m. | Last Modified: 15 Mar 2022, 5:32 p.m.
Panel Version: 1.217
The review by Emily Jones (9 Jul 2019) and Zornitza Stark (5 Sep 2020), have raised concerns about the relevance of the phenotypes associated with variants in AFG3L2 to scope of this panel.
Helen Brittain (Genomics England Clinical Fellow) has suggested this gene should be rated Amber on Childhood onset dystonia or chorea or related movement disorder panel.
AFG3L2 is already Green on Ataxia and cerebellar anomalies - narrow (https://panelapp.genomicsengland.co.uk/panels/477/gene/AFG3L2) and Hereditary ataxia - adult onset (https://panelapp.genomicsengland.co.uk/panels/466/gene/AFG3L2) panels.Created: 20 Jul 2021, 4:43 p.m. | Last Modified: 20 Jul 2021, 4:54 p.m.
Panel Version: 1.136
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia is not a prominent feature of this condition. There is a single family reported with complex dystonia. Some of the literature relates to a family whose affected members carried an 18p chromosomal deletion that included AFG3L2 but also other genes.Created: 5 Sep 2020, 3:31 a.m. | Last Modified: 5 Sep 2020, 3:31 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive MIM#614487
Publications
Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple unrelated familiesCreated: 12 Dec 2019, 1:55 p.m. | Last Modified: 12 Dec 2019, 2:16 p.m.
Panel Version: 0.256
Associated with AR and AD ataxia. Dystonia can be a feature. Mean age of onset is adulthood, but has been reported in juveniles. More appropriate on ataxia panelsCreated: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Tag Q2_21_rating was removed from gene: AFG3L2. Tag Q2_21_phenotype was removed from gene: AFG3L2.
Tag Q2_21_rating tag was added to gene: AFG3L2.
Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 to Spastic ataxia 5, autosomal recessive, OMIM:614487
Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive 614487; Spinocerebellar ataxia 28 610246 to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Tag to_be_confirmed_NHSE tag was added to gene: AFG3L2.
Tag Q2_21_phenotype tag was added to gene: AFG3L2.
Publications for gene: AFG3L2 were set to 22964162; 16541453; 32219868
Publications for gene: AFG3L2 were set to 22964162; 1654145; 332219868
Publications for gene: AFG3L2 were set to 22964162; 1654145332219868
Publications for gene: AFG3L2 were set to
Phenotypes for gene: AFG3L2 were changed from Dystonia to Spastic ataxia 5, autosomal recessive 614487; Spinocerebellar ataxia 28 610246
Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source South West GLH was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from to Unknown Added phenotypes Dystonia for gene: AFG3L2
gene: AFG3L2 was added gene: AFG3L2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to