1. Panels
  2. Leukodystrophy - adult onset
  3. SPG7
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - adult onset

Gene: SPG7

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

White matter abnormalities reported in two cases. It is unclear whether this is a prominent feature of the condition.
Sources: Expert list
Created: 19 Jan 2020, 9:36 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7, autosomal recessive 607259

Publications

Created: 19 Jan 2020, 9:36 a.m.

Panel version: 0.14

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 7, autosomal recessive 607259
OMIM
602783
Clinvar variants
Variants in SPG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg7 has been classified as Amber List (Moderate Evidence).

19 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spg7 has been classified as Amber List (Moderate Evidence).

19 Jan 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 Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 20108356; 17646629 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive 607259 Review for gene: SPG7 was set to AMBER