Genomics England

spastin

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 6.0	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 R-numbers: R58 Signed-off version 8.0	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 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 6.0	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 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438