Genes in panel

Adult onset movement disorder

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

History Filter Activity

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.

3 Jan 2019, Gel status: 4

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