Hereditary Spastic Paraplegia - paediatric

Gene: AFG3L2

Green List (high evidence)

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

6 Mar 2025, Gel status: 3

Set publications

Chirag Patel (Genetic Health Queensland)

Publications for gene: AFG3L2 were set to 22022284; 25401298; 20208537; 20725928; 33075064; 32248051; 30910913

13 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afg3l2 has been classified as Green List (High Evidence).

13 Mar 2021, Gel status: 3

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

13 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AFG3L2 were set to

13 Mar 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: AFG3L2 was changed from to Other

31 Dec 2019, Gel status: 3

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