SPAST

spastin
OMIM: 604277, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SPAST in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list
Green SPAST in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.224	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SPAST in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy MONDO:0006497, SPAST-related
Green SPAST in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 4, autosomal dominant (MIM#182601), AD Cerebral Palsy MONDO:0006497, SPAST-related, AR
Red SPAST in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic paraplegia 4, autosomal dominant, MIM# 182601
Amber SPAST in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.151 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 4, autosomal dominant 182601
Green SPAST in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.15 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant, 182601
Green SPAST in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 4, autosomal dominant, MIM# 182601 Cerebral Palsy MONDO:0006497, SPAST-related, AR
Green SPAST in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant Spasticity Hereditary Neuropathies
Red SPAST in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Expert list Phenotypes Spastic paraplegia 4, autosomal dominant, MIM# 182601