Genomics England

SPG11

SPG11, spatacsin vesicle trafficking associated

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset dystonia, chorea or related movement disorder Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.0	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 Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.10	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668
Green in Adult onset neurodegenerative disorder Component of the following Super Panels: - Adult-onset neurological disorders R-numbers: R58 Signed-off version 9.0	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 9.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA-11 604360
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA-11
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.0	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 10.0	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 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Green in Retinal disorders R-numbers: R32 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 11, autosomal recessive, OMIM:604360, retinal disorder, MONDO:0005283
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paralplegia 11, autosomal recessive, OMIM:604360