Leukodystrophy - 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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Complex SPG with central involvement, including white matter changes. Variable age of onset, including in adolescence/adulthood.
Created: 21 Jun 2020, 5:23 a.m. | Last Modified: 21 Jun 2020, 5:23 a.m.
Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 11, autosomal recessive, MIM# 604360

Publications

History Filter Activity

21 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg11 has been classified as Green List (High Evidence).

21 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPG11 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPG11 was added gene: SPG11 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG11 were set to Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Spastic paraplegia 11, autosomal recessive, MIM#604360