Inherited white matter disorders
Gene: SPG11
SPG11 (SPG11, spatacsin vesicle trafficking associated)
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Zornitza Stark (Australian Genomics)
Periventricular white matter changes are part of the phenotype.Created: 24 Jul 2018, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paralplegia 11, autosomal recessive, MIM#604360
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spastic paralplegia 11, autosomal recessive, MIM#604360
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Paediatric motor neuronopathies
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Childhood onset hereditary spastic paraplegia
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: spg11 has been classified as Red List (Low Evidence).
24 Jul 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)SPG11 was added to Inherited white matter disorders panel. Sources: Expert list
24 Jul 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)SPG11 was created by Zornitza Stark