Hereditary neuropathy or pain disorder
Gene: AFG3L2EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Pierson et al (PMID: 22022284) reported a homozygous AFG3L2 variant, in two brothers from a consanguineous Hispanic family with Spastic Ataxia-Neuropathy. Supportive functional studies for this variant were also presented.Created: 22 Oct 2024, 11:29 a.m. | Last Modified: 22 Oct 2024, 11:29 a.m.
Panel Version: 5.54
Alexander Rossor (UCL Institute of Neurology)
I think Amber, only a single family
Sources: Expert listCreated: 10 Oct 2024, 3:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Spastic ataxia 5, autosomal recessive, OMIM:614487
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12,OMIM; 618977; Spastic ataxia 5, autosomal recessive, OMIM:614487 to Spastic ataxia 5, autosomal recessive, OMIM:614487
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy to Optic atrophy 12,OMIM; 618977; Spastic ataxia 5, autosomal recessive, OMIM:614487
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: AFG3L2 were set to 22022284:
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: AFG3L2 was added gene: AFG3L2 was added to Hereditary neuropathy or pain disorder. 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 22022284: Phenotypes for gene: AFG3L2 were set to spasticity, peripheral neuropathy, ptosis, oculomotor apraxia; dystonia; cerebellar atrophy; progressive myoclonic epilepsy Penetrance for gene: AFG3L2 were set to Complete Review for gene: AFG3L2 was set to AMBER