Adult onset neurodegenerative disorder
Gene: SPG7
The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 4:47 p.m. | Last Modified: 10 Oct 2023, 4:47 p.m.
Panel Version: 4.37
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.Created: 11 Apr 2023, 10:44 a.m. | Last Modified: 12 Apr 2023, 8:28 a.m.
Panel Version: 4.13
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 Apr 2023, 10:15 a.m. | Last Modified: 11 Apr 2023, 10:15 a.m.
Panel Version: 4.6
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
This is a progressive complex neurological condition and there are multiple reports of the condition mimicking MND.Created: 28 Sep 2020, 4:11 a.m. | Last Modified: 28 Sep 2020, 4:11 a.m.
Panel Version: 2.16
Phenotypes
Spastic paraplegia 7, autosomal recessive MIM#607259
Publications
Variants in this GENE are reported as part of current diagnostic practice
SPG7 shows phenotypic variability between families. Adult onset - >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Spastic paraplegia 7, autosomal recessive
Associated with spastic ataxia.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, 607259, complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Spastic paraplegia 7, autosomal recessive
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Tag Q2_23_promote_green was removed from gene: SPG7. Tag Q2_23_MOI was removed from gene: SPG7.
Source Expert Review Green was added to SPG7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 25681447; 16765570; 19364936; 9635427; 18200586
Tag Q2_23_promote_green tag was added to gene: SPG7. Tag Q2_23_MOI tag was added to gene: SPG7.
Publications for gene: SPG7 were set to 25681447; 16765570; 19364936; 9635427
Gene: spg7 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Publications for gene: SPG7 were set to PMID: 25681447; Casari et al (1998)
Source Expert Review Red was added to SPG7. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to SPG7.
Source Yorkshire and North East GLH was added to SPG7.
Source NHS GMS was added to SPG7.
Source London North GLH was added to SPG7.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia for gene: SPG7
gene: SPG7 was added gene: SPG7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to PMID: 25681447; Casari et al (1998) Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive