Hereditary ataxia
Gene: AFG3L2

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels

3 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from expert reviewer and OMIM
Created: 2 Feb 2016, 9:54 a.m.

Comment on mode of pathogenicity: Dominant negative
Created: 2 Feb 2016, 9:54 a.m.

Comment on mode of inheritance: OMIM describes both AD and AR forms as well
Created: 2 Feb 2016, 9:53 a.m.

Created: 2 Feb 2016, 9:53 a.m.

Panel version: 0.1

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of eviedence in literature. Positives in our cohort. Variants be dominant negative
Created: 24 Nov 2015, 4:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 28; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:56 p.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Mode of inheritance differed between sources; dominant (Illumina), recessive (Radboud), both (UKGTN).
Created: 6 Jul 2015, 12:18 p.m.

Created: 6 Jul 2015, 12:18 p.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Spinocerebellar ataxia 28, OMIM:610246
Spastic ataxia 5, autosomal recessive, OMIM:614487

OMIM

604581

Clinvar variants

Variants in AFG3L2

Penetrance

Complete

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2016, Gel status: 3

Set mode of pathogenicity

Damian Smedley (Genomics England Curator)

Mode of pathogenicity for AFG3L2 was changed to Other - please provide details in the comments

2 Feb 2016, Gel status: 3

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for AFG3L2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 3