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Intellectual disability syndromic and non-syndromic

Gene: SPG7

Red List (low 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)

Red List (low evidence)

Mean age of onset is around 30, primarily spasticity though some affected individuals have a more complex neurological disorder. Cognitive deficits may develop, but not true ID.
Created: 27 Feb 2020, 9:55 a.m. | Last Modified: 27 Feb 2020, 9:55 a.m.
Panel Version: 0.2243

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7, autosomal recessive, MIM# 607259

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7, autosomal recessive; OMIM #607259

Details

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

History Filter Activity

27 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg7 has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from SPG7. Source Expert list was added to SPG7. Mode of inheritance for gene SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive; OMIM #607259

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPG7 was added gene: SPG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPG7 was set to Unknown