Childhood onset hereditary spastic paraplegia
Gene: AFG3L2The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
Disease causing variants are both monoallelic and biallelicCreated: 19 May 2021, 9:55 a.m. | Last Modified: 19 May 2021, 9:55 a.m.
Panel Version: 2.35
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Childhood onset only with a spastic ataxia phenotype. Distinct from autosomal dominant SCA28.Created: 3 May 2019, 1:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Victoria: early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy. Several publications, In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive. Spinocerebellar ataxia 28, autosomal dominant, 610246
Aut domimant forms of SCA28 typically later onset - but early onset has been described
Onset of AR spastic ataxia 5 in infancy or early childhoodCreated: 14 Jan 2019, 4:01 p.m.
Tag Q2_21_MOI was removed from gene: AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_21_MOI tag was added to gene: AFG3L2.
Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Publications for gene: AFG3L2 were set to
Source Yorkshire and North East GLH was added to AFG3L2.
Source NHS GMS was added to AFG3L2.
Source London North GLH was added to AFG3L2.
Added phenotypes Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Arianna Tucci: Aut domimant forms of SCA28 ty
Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, 614487; Ataxia, spastic, 5, autosomal recessive
gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive