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Childhood onset dystonia, chorea or related movement disorder
Gene: AFG3L2

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

The rating of this gene has been updated from green to amber following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:20 p.m.

Panel Version: 4.3

Created: 4 May 2024, 6:04 p.m.
Last Modified: 4 May 2024, 6:20 p.m.
Panel version: 4.3

Eleanor Williams (Genomics England Curator)

Added 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

Created: 6 Oct 2022, 3:44 p.m.
Last Modified: 6 Oct 2022, 3:44 p.m.
Panel version: 1.261

Sarah Leigh (Genomics England Curator)

I don't know

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

Created: 20 Jul 2021, 4:43 p.m.
Last Modified: 20 Jul 2021, 4:54 p.m.
Panel version: 1.217

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Created: 5 Sep 2020, 3:31 a.m.
Last Modified: 5 Sep 2020, 3:31 a.m.
Panel version: 1.49

Louise Daugherty (Genomics England Curator)

Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple unrelated families
Created: 12 Dec 2019, 1:55 p.m. | Last Modified: 12 Dec 2019, 2:16 p.m.

Panel Version: 0.256

Created: 12 Dec 2019, 1:55 p.m.
Last Modified: 12 Dec 2019, 2:16 p.m.
Panel version: 0.256

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

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 panels
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS
South West GLH
London North GLH

Phenotypes

Spastic ataxia 5, autosomal recessive, OMIM:614487

OMIM

604581

Clinvar variants

Variants in AFG3L2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 May 2024, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag to_be_confirmed_NHSE was removed from gene: AFG3L2.

4 May 2024, Gel status: 2

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to AFG3L2. Source Expert Review Amber was added to AFG3L2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Dec 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_rating was removed from gene: AFG3L2. Tag Q2_21_phenotype was removed from gene: AFG3L2.

6 Oct 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: AFG3L2.

19 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

19 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

15 Mar 2022, Gel status: 3