Hereditary Spastic Paraplegia - paediatric
Gene: AFG3L2
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
Publications for gene: AFG3L2 were set to 22022284; 25401298; 20208537; 20725928; 33075064; 32248051; 30910913
Gene: afg3l2 has been classified as Green List (High Evidence).
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
Publications for gene: AFG3L2 were set to
Mode of pathogenicity for gene: AFG3L2 was changed from to Other
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