SPG7

SPG7, paraplegin matrix AAA peptidase subunit
OMIM: 602783
PanelMode of inheritanceDetails
9 panels
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
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
R-numbers: R60
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive, 607259
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive, 607259
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
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
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
R-numbers: R41, R42.2
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
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