Genomics England

SPAST

spastin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset hereditary spastic paraplegia Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green in Adult onset neurodegenerative disorder Component of the following Super Panels: - Adult-onset neurological disorders R-numbers: R58 Signed-off version 9.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 9.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SPAST-related developmental disorder (monoallelic)
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438