Genomics England

SPG11

SPG11, spatacsin vesicle trafficking associated

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 11, autosomal recessive, OMIM:604360, Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668, Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 11, autosomal recessive, 604360, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, OMIM:604360, Complex parkinsonism, hereditary spastic paraparesis, Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 11, autosomal recessive, 604360
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA-11 604360
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA-11
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hereditary Neuropathies, axonal Charcot-Marie-Tooth disease type 2X
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 11, autosomal recessive, 604360, SPASTIC PARAPLEGIA-11
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paralplegia 11, autosomal recessive, OMIM:604360