1. Panels
  2. Motor Neurone Disease
  3. SPG7
Regions in panel
Prev Next

Motor Neurone Disease

Gene: SPG7

Green List (high evidence)
SPG7 (SPG7, paraplegin matrix AAA peptidase subunit)
EnsemblGeneIds (GRCh38): ENSG00000197912
EnsemblGeneIds (GRCh37): ENSG00000197912
OMIM: 602783, Gene2Phenotype
SPG7 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.

Well established for bi-allelic variants.

Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.

Association with OA: 7 families reported for AD OA, including 5 missense and 2 frameshift variants, PMID 32548275
Created: 6 Apr 2022, 8:13 a.m. | Last Modified: 6 Apr 2022, 8:17 a.m.
Panel Version: 0.12610

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250

Publications

Created: 6 Apr 2022, 8:13 a.m.
Last Modified: 6 Apr 2022, 8:17 a.m.
Panel version: Imported from Mendeliome panel version 0.12610

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND.
Sources: Literature
Created: 19 Jun 2020, 6 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7, autosomal recessive MIM#607259

Publications

Created: 19 Jun 2020, 6 a.m.

Panel version: 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 7, autosomal recessive MIM#607259
OMIM
602783
Clinvar variants
Variants in SPG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spg7 has been classified as Green List (High Evidence).

19 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spg7 has been classified as Green List (High Evidence).

19 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPG7 was added gene: SPG7 was added to Motor Neuron Disease. Sources: Literature Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 16765570; 19364936 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive MIM#607259 Review for gene: SPG7 was set to GREEN