Early onset dystonia
Gene: AFG3L2EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
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.Created: 23 Oct 2023, 3:43 p.m. | Last Modified: 23 Oct 2023, 3:43 p.m.
Panel Version: 1.138
Eldar Dedic (Independent Clinical Genetics Consultant)
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
- PMID: 32219868
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Spinocerebellar ataxia 28, OMIM:610246
- Spastic ataxia 5, autosomal recessive, OMIM:614487
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: afg3l2 has been classified as Green List (High Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from Dystonia to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Added New Source
GEL ()AFG3L2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory