AFG3L2

AFG3 like matrix AAA peptidase subunit 2
OMIM: 604581
PanelMode of inheritanceDetails
11 panels
R-numbers: R56
Signed-off version 3.19
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
R-numbers: R58
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, OMIM:610246, Ataxia, spastic, 5, autosomal recessive, OMIM:614487, Dystonia
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
R-numbers: R61
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 5, autosomal recessive OMIM:614487, spastic ataxia 5 MONDO:0013776, Spinocerebellar ataxia 28 OMIM:610246, spinocerebellar ataxia type 28 MONDO:0012450
R-numbers: R54
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 12, OMIM:618977, Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 12, OMIM:618977, Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
R-numbers: R352
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 12, OMIM:618977, Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
R-numbers: R41
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 12, OMIM:618977 (AD), Spastic ataxia 5, autosomal recessive, OMIM:614487 (AR)
R-numbers: R63
Signed-off version 3.105
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 12, OMIM:618977, Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
R-numbers: R32
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 12, OMIM:618977, MONDO:0033549, Spastic ataxia 5, autosomal recessive, OMIM:614487