Adult onset dystonia, chorea or related movement disorder
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- 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
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Retinal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Amyotrophic lateral sclerosis/motor neuron disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SPG11 were changed from Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve to Spastic paraplegia 11, autosomal recessive, OMIM:604360; Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668; Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SPG11.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SPG11.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SPG11 was added gene: SPG11 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 27820618; 19224311; 21381113 Phenotypes for gene: SPG11 were set to Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve