This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: AFG3L2
AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels
1 review
Emily Jones (North Bristol NHS Trust)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Dystonia
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia with onset in adulthood
- DDG2P
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary ataxia
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Adult onset hereditary spastic paraplegia
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene AFG3L2 was changed from to Unknown Added phenotypes Dystonia for gene: AFG3L2
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to AFG3L2.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: AFG3L2 was added gene: AFG3L2 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: AFG3L2 was set to