Genomics England

SPG7

SPG7, paraplegin matrix AAA peptidase subunit

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 2.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Autosomal recessive spastic paraplegia 7, 607259
Green in Hereditary spastic paraplegia - adult onset R-numbers: R60 Signed-off version 1.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7, autosomal recessive, 607259
Green in Hereditary spastic paraplegia - childhood onset R-numbers: R61 Signed-off version 2.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7, autosomal recessive, 607259
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 2.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Spastic paraplegia 7, autosomal recessive, 607259, Disorders of mitochondrial DNA maintenance and integrity
Green in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 2.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Disorders of mitochondrial DNA maintenance and integrity, Spastic paraplegia 7, autosomal recessive, 607259
Green in Mitochondrial DNA maintenance disorder 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
Green in Optic neuropathy R-numbers: R41, R42.2 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Green in Possible mitochondrial disorder - nuclear genes 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