Genes in panel

Neurodegenerative disorders - adult onset

Gene: SPG11

Green List (high evidence)

SPG11 (SPG11, spatacsin vesicle trafficking associated)
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 16 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity. Onset in late teens/early adulthood.> 3cases
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset in first or second decade
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • early onset parkinsonism, levo dopa responsve
  • Spastic paraplegia 11, autosomal recessive
  • Complex parkinsonism
  • hereditary spastic paraparesis
  • Early Onset Complex Disease
OMIM
610844
Clinvar variants
Variants in SPG11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SPG11.

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SPG11 were changed from 19224311; 27820618; Stevanin et al. (2007); 21381113 to 21381113; 22554690; 19224311; 18067136; 27820618)

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SPG11.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SPG11.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SPG11.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes early onset parkinsonism, levo dopa responsve; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease for gene: SPG11

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SPG11 was added gene: SPG11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 19224311; 27820618; Stevanin et al. (2007); 21381113 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive