SPG11

SPG11, spatacsin vesicle trafficking associated
OMIM: 610844, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green SPG11 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Early Onset Complex Disease hereditary spastic paraparesis early onset parkinsonism, levo dopa responsve Complex parkinsonism
Green SPG11 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Amyotrophic lateral sclerosis 5, juvenile 602099
Green SPG11 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic paralplegia 11, autosomal recessive, OMIM:604360
Green SPG11 in Adult onset leukodystrophy Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668
Red SPG11 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic paralplegia 11, autosomal recessive, MIM#604360
Green SPG11 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Spastic paraplegia 11, autosomal recessive
Green SPG11 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 11, autosomal recessive, 604360
Green SPG11 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR Amyotrophic lateral sclerosis 5, juvenile, 602099, AR
Green SPG11 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green 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 SPG11 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA-11
No list SPG11 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Amyotrophic lateral sclerosis 5, juvenile
Green SPG11 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Green SPG11 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA-11 604360
Green SPG11 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Phenotypes Hereditary Neuropathies axonal Charcot-Marie-Tooth disease type 2X
Green SPG11 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 SPASTIC PARAPLEGIA-11
Green SPG11 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green 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 SPG11 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green London North GLH Emory Genetics Laboratory NHS GMS London North GLH Phenotypes Hereditary Neuropathies axonal Charcot-Marie-Tooth disease type 2X
Green SPG11 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Charcot-Marie-Tooth disease, axonal, type 2X, 616668 Amyotrophic lateral sclerosis 5, juvenile, 602099