Hereditary Neuropathy - complex
Gene: AFG3L2
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
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
Gene: afg3l2 has been classified as Green List (High Evidence).
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
Publications for gene: AFG3L2 were set to
Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
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