Adult onset dystonia, chorea or related movement disorder
Gene: AFG3L2EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Associated with AR and AD ataxia. Dystonia can also be a feature. Mean age of onset is adulthood.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Dystonia
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- South West GLH
- Phenotypes
-
- Spinocerebellar ataxia 28, OMIM:610246
- Spastic ataxia 5, autosomal recessive, OMIM:614487
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Optic neuropathy
- Adult onset neurodegenerative disorder
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from Dystonia to Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: afg3l2 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Dystonia for gene: AFG3L2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AFG3L2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to AFG3L2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: AFG3L2 was added gene: AFG3L2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: AFG3L2 was set to Phenotypes for gene: AFG3L2 were set to Dystonia