Hereditary spastic paraplegia - adult onset

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 19 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria: early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy. Several publications, In Sheffields HSP panel
Created: 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

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to AFG3L2.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AFG3L2.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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