Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Component of the following Super Panels:
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 onsetR-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 1.27 | 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 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
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 disordersComponent of the following Super Panels:
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 |
Green in Optic neuropathyR-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 |