Genomics England

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPINOCEREBELLAR ATAXIA 28 610246, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 28, OMIM:610246, Spastic ataxia 5, autosomal recessive, OMIM:614487
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	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 Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	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 3.10	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 Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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 6.46	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 5.17	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 9.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 12, OMIM:618977, MONDO:0033549, Spastic ataxia 5, autosomal recessive, OMIM:614487