SPAST

spastin
OMIM: 604277, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber SPAST in Autism Version 0.36	review	Not set	Sources Expert Review Amber SFARI
Green SPAST in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST 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, imprinted status unknown	Sources Expert Review Green Research Literature Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPAST-related developmental disorder (monoallelic)
Green SPAST in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Red SPAST in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 4, autosomal dominant, 182601
Amber SPAST in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber UKGTN Emory Genetics Laboratory London North GLH NHS GMS NHS GMS London North GLH Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438
Green SPAST in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438