Genomics England

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Ataxia, spastic, 5, autosomal recessive, OMIM:614487, Dystonia
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	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 ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Green in Likely inborn error of metabolism 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 7.0	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
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	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
Green in Mitochondrial DNA maintenance disorder 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
Green in Optic neuropathy 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)
Green in Possible mitochondrial disorder - nuclear genes 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
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 12, OMIM:618977, MONDO:0033549, Spastic ataxia 5, autosomal recessive, OMIM:614487