AFG3L2

AFG3 like matrix AAA peptidase subunit 2
OMIM: 604581
PanelMode of inheritanceDetails
12 panels
R-numbers: R56
Signed-off version 1.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, Spastic ataxia 5, autosomal recessive, 614487, Spinocerebellar ataxia 28, 610246
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive
R-numbers: R57
Signed-off version 1.58
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive 614487, Spinocerebellar ataxia 28 610246
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, 610246, Ataxia, spastic, 5, autosomal recessive, spastic ataxia 5, 614487, Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant
R-numbers: R60
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive, Ataxia, spastic, 5, autosomal recessive, Spinocerebellar ataxia 28, autosomal dominant, 610246
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive, 614487
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Ataxia, spastic, 5, autosomal recessive, 614487, Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Spinocerebellar ataxia 28, 610246, Disorders of mitochondrial DNA maintenance and integrity
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA 28
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Spinocerebellar ataxia 28, 610246, Ataxia, spastic, 5, autosomal recessive, 614487
R-numbers: R352
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions
R-numbers: R58
Signed-off version 2.31
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions