Incidentalome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades. Ten unrelated families in the original paper.
Created: 28 Sep 2020, 3:36 a.m. | Last Modified: 28 Sep 2020, 3:36 a.m.
Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Dementia or cognitive decline has been reported in at least 3 cases/families with biallelic mutations. Spg11 knockout mice have cognitive deficits.
Created: 6 Feb 2020, 6:24 a.m. | Last Modified: 6 Feb 2020, 6:24 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099

Publications

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPG11 was added gene: SPG11 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPG11 was set to Unknown