Adult onset hereditary spastic paraplegia
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Adult and childhood onsetCreated: 10 May 2019, 9:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
several mutations in several unrelated families causing SPG11. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, 604360; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 11, autosomal recessive, 604360
- Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR
- Amyotrophic lateral sclerosis 5, juvenile, 602099, AR
- 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 publications
Louise Daugherty (Genomics England Curator)Publications for gene: SPG11 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SPG11.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SPG11. Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SPG11.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SPG11 was added gene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG11 was set to