Hereditary spastic paraplegia - childhood onset
Gene: AFG3L2
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.
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