SPG7, paraplegin matrix AAA peptidase subunit
OMIM: 602783, Gene2Phenotype
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SPG7 in White matter disorders and cerebral calcification - narrow panel
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review | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Phenotypes
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SPG7 in Ataxia and cerebellar anomalies - narrow panel
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Hereditary ataxia
Level 3: Motor Disorders of the CNS
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Inherited white matter disorders
Level 3: White matter disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Mitochondrial DNA maintenance disorder
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Hereditary spastic paraplegia
Level 3: Motor Disorders of the CNS
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Optic neuropathy
Level 3: Posterior segment abnormalities
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Childhood onset hereditary spastic paraplegia
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Adult onset hereditary spastic paraplegia
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Adult onset neurodegenerative disorder
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Likely inborn error of metabolism - targeted testing not possible
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Possible mitochondrial disorder - nuclear genes
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Mitochondrial disorders
Level 3: Mitochondrial
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Hereditary ataxia with onset in adulthood
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Retinal disorders
Level 3: Posterior segment abnormalities
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Hereditary neuropathy or pain disorder
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Childhood onset dystonia, chorea or related movement disorder
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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SPG7 in Severe Paediatric Disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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