Hereditary Neuropathy - complex

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 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Peripheral neuropathy in the bi-allelic SCA.
Created: 19 May 2023, 8:43 a.m. | Last Modified: 19 May 2023, 8:43 a.m.
Panel Version: 0.144

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 5, autosomal recessive, MIM# 614487

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

4 individuals from 3 unrelated families with progressive Spastic Ataxia 5 and a homozygous mutation in AFG3L2.

PMID: 22022284 - In vitro functional assay in yeast cells and patient fibroblasts was conducted on a homozygous Y616C mutation in AFG3l2 (a hypomorphic allele).The study showed a reduced activity of the enzyme but not complete inhibition.
Created: 19 May 2023, 12:36 a.m. | Last Modified: 19 May 2023, 12:36 a.m.
Panel Version: 0.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic Ataxia 5 (MIM#614487; MONDO:0013776)

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776
  • Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
OMIM
604581
Clinvar variants
Variants in AFG3L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: afg3l2 has been classified as Green List (High Evidence).

19 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AFG3L2 were changed from Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia to Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776; Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia

19 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AFG3L2 were set to

19 May 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AFG3L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFG3L2 were set to Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia