Ataxia and cerebellar anomalies - childhood onset
Gene: AFG3L2EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia 28, OMIM:610246
- Spastic ataxia 5, autosomal recessive, OMIM:614487
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- None
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Hereditary spastic paraplegia, adult onset
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia, childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Optic neuropathy
- Hereditary spastic paraplegia
- Mitochondrial DNA maintenance disorder
- DDG2P
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: AFG3L2 was added gene: AFG3L2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive Mode of pathogenicity for gene: AFG3L2 was set to Other - please provide details in the comments