This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert
- Phenotypes
-
- Early Onset Complex Disease
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia, adult onset
- Paediatric motor neuronopathies
- Hereditary spastic paraplegia, childhood onset
- Inherited white matter disorders
- DDG2P
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SPG11 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert