Hereditary Spastic Paraplegia - paediatric
Gene: AFG3L2EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants are associated with Spastic ataxia-5 (SPAX5), a neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy.
Mono-allelic variants are associated with Spinocerebellar ataxia 28, MIM#610246, mean age of onset is 19.5 years (range 12 to 36). Both dominant-negative and LoF reported.Created: 13 Mar 2021, 2:16 a.m. | Last Modified: 13 Mar 2021, 2:16 a.m.
Panel Version: 0.159
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic ataxia 5, autosomal recessive, MIM# 614487
- Spinocerebellar ataxia 28, MIM# 610246
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Hereditary Neuropathy - complex
- Optic Atrophy
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Progressive Myoclonic Epilepsy
- Neurodegeneration with brain iron accumulation
- Dystonia - complex
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: afg3l2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AFG3L2 were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: AFG3L2 was changed from to Other
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive