Adult onset hereditary spastic paraplegia
Gene: AFG3L2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
The following tags have been added to this gene:
Q2_21_phenotype because this gene is associated with childhood onset of ataxia, whereas this is an adult onset panel
Q2_21_MOI because biallelic and monoallelic variants are reported in ataxia associated with AFG3L2.Created: 18 May 2021, 4:06 p.m. | Last Modified: 18 May 2021, 4:06 p.m.
Panel Version: 1.20
Childhood onset.Created: 20 Sep 2020, 7:48 a.m. | Last Modified: 20 Sep 2020, 7:48 a.m.
Panel Version: 1.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive 614487
Childhood onset only with a spastic ataxia phenotype. Distinct from autosomal dominant SCA28.Created: 3 May 2019, 3:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 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: 25 Apr 2019, 1:22 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
Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Spastic ataxia 5, autosomal recessive, OMIM:614487
Tag Q2_21_phenotype was removed from gene: AFG3L2. Tag Q2_21_MOI was removed from gene: AFG3L2.
Source Expert Review Amber was added to AFG3L2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Tag Q2_21_MOI tag was added to gene: AFG3L2.
Tag Q2_21_phenotype tag was added to gene: AFG3L2.
Source Yorkshire and North East GLH was added to AFG3L2.
Source Expert Review Green was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 for gene: AFG3L2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AFG3L2.
gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AFG3L2 was set to