Childhood onset hereditary spastic paraplegia
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
4 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)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
several mutations in several unrelated families causing SPG11. In sheffields HSP panelCreated: 28 Apr 2019, 4:16 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
Arianna Tucci (Genomics England Curator)
onset during infancy or adolescenceCreated: 25 Feb 2019, 11:01 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 11, autosomal recessive, 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
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SPG11.
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.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11 Publications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset at birth
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SPG11 were set to Stevanin et al. (2007)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SPG11 was added gene: SPG11 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to Stevanin et al. (2007) Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive