Parkinson Disease and Complex Parkinsonism

Gene: SPG11

Green List (high evidence)

SPG11 (SPG11, spatacsin vesicle trafficking associated)
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Biallelic mutation cause hereditary spastic paraparesis with thinning of the corpus callosum (clinical features include early-onset involvement of corticospinal tract and muscle stiffness, followed by slow development of progressive spastic paraparesis, cognitive deterioration, predominantly axonal polyneuropathy, and motor symptoms. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism). This is the most common cause of aut recessive HSP. PMID: 19224311 (describes 2 patients with juvenile parkinsonism), 21381113 (one family with SPG11 and early onset parkinsonism, levo dopa responsve), 27820618 (responsive to deep brain stimulation and levo dopa. Complex parkinsonism. brain MRI and other associated clinical features would be needed to confirm a potential pathogenic mutation
Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary spastic paraparesis; early onset parkinsonism, levo dopa responsve; Complex parkinsonism

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green after discussion with Arianna.
Created: 8 Dec 2016, 3:28 p.m.
Comment on list classification: Spastic paraplegia 11 can include parkinsonism as a clincal characteristic, though it is less frequent (PMID: 20301389). This is a green gene on the Hereditary spastic paraplegia version 1.0 panel.
Created: 3 Nov 2016, 6:02 p.m.

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SPG11 were set to Early Onset Complex Disease;hereditary spastic paraparesis; early onset parkinsonism, levo dopa responsve; Complex parkinsonism

15 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SPG11 were set to 19224311; 21381113; 27820618

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG11 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SPG11 was created by ellenmcdonagh