Genomics England

SPG7

SPG7, paraplegin matrix AAA peptidase subunit

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259, hereditary spastic paraplegia 7, MONDO:0011803
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 7, autosomal recessive, 607259
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.0	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 Likely inborn error of metabolism - targeted testing not possible 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 4.0	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: - Childhood onset leukodystrophy Signed-off version 4.0	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 3.0	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 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OMIM:607259, autosomal dominant optic atroph, MONDO:0020250
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions