Genetic Epilepsy
Gene: AFG3L2

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: The two families reported with ballelic variants appear distantly related. One family with mono-allelic variant.
Created: 4 Feb 2020, 6:57 a.m. | Last Modified: 4 Feb 2020, 6:57 a.m.

Panel Version: 0.563

Created: 4 Feb 2020, 6:57 a.m.
Last Modified: 4 Feb 2020, 6:57 a.m.
Panel version: 0.563

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.
Sources: Expert list
Created: 4 Feb 2020, 2:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246

Publications

Created: 4 Feb 2020, 2:41 a.m.

Panel version: 0.560

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Spastic ataxia 5, autosomal recessive MIM#614487
Spinocerebellar ataxia 28 MIM#610246

OMIM

604581

Clinvar variants

Variants in AFG3L2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afg3l2 has been classified as Red List (Low Evidence).

4 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AFG3L2 was added gene: AFG3L2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 25401298; 22022284; 25927548 Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246 Review for gene: AFG3L2 was set to AMBER

Genetic Epilepsy Gene: AFG3L2