Genomics England

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset movement disorder R-numbers: R56 Signed-off version 2.1	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
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 2.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic ataxia 5, autosomal recessive 614487, Spinocerebellar ataxia 28 610246
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	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
Green in Hereditary spastic paraplegia - childhood onset R-numbers: R61 Signed-off version 3.1	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
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
Green in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 3.1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 2.1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 3.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Ataxia, spastic, 5, autosomal recessive, OMIM:614487, Dystonia
Green in Optic neuropathy R-numbers: R41 Signed-off version 3.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 12, 618977
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 2.2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions
Green in Retinal disorders R-numbers: R32 Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Optic atrophy 12, OMIM:618977, MONDO:0033549