Syndromic Retinopathy
Gene: AFG3L2
AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.Created: 21 Aug 2020, 7:07 a.m. | Last Modified: 21 Aug 2020, 7:07 a.m.
Panel Version: 0.3863
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Publications
Bryony Thompson (Royal Melbourne Hospital)
The onset of the recessive form of ataxia is usually in infancy or childhood. The dominantly inherited form of ataxia is mostly adult onset, but onset in childhood has been reported.
Sources: Expert listCreated: 16 Apr 2020, 7:25 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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Expert list
- RetNet
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 604581
- Clinvar variants
- Variants in AFG3L2
- Penetrance
- None
- Panels with this gene
-
- Hereditary Neuropathy - complex
- Optic Atrophy
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Progressive Myoclonic Epilepsy
- Neurodegeneration with brain iron accumulation
- Dystonia - complex
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
7 Feb 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: AFG3L2 was added gene: AFG3L2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: AFG3L2 was set to Unknown