Ataxia and cerebellar anomalies - narrow panel
Gene: SPG7Associated 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, 11:04 a.m. | Last Modified: 11 Apr 2023, 11:51 a.m.
Panel Version: 4.7
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
The mode of inheritance of this gene has been updated to"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal"following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 10:01 a.m. | Last Modified: 11 Oct 2023, 10:01 a.m.
Panel Version: 4.37
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. The reviewers note that the age of onset includes under 16. Gene should be included in a diagnostic test for ataxia. At least 2 patients with age of onset of 15 years in 30588500; further 2 patients with onset 11 and 14 in 14985266.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 11:19 p.m. | Last Modified: 5 Oct 2022, 11:19 p.m.
Panel Version: 2.306
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.
PMID:33774748. Age of onset reported ranged from 12-61 yo (mean age = 39.1). 25 unrelated families of Irish descent.
PMID:32161564. Age of onset 25 - 45 yo.
PMID:31068484. Age of onset 35.5 +/- 14.3 years (mean age = 50.4). 241 patients were part of the study.
PMID:23065789. Age of onset 10 - 45 yo. 137 patients were part of the study.
As the age of onset is quite a wide range this gene will remain Green to ensure edge cases are identified. This gene has been tagged for GMS expert review on whether this gene's rating needs to be changed.Created: 4 May 2021, 1:29 p.m. | Last Modified: 4 May 2021, 1:29 p.m.
Panel Version: 2.149
Comment on phenotypes: Previous phenotypes:
Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxiaCreated: 19 Apr 2021, 11:53 a.m. | Last Modified: 19 Apr 2021, 11:53 a.m.
Panel Version: 2.114
Publications
The onset of the ataxia is generally in adulthood.Created: 13 Sep 2020, 6:47 a.m. | Last Modified: 13 Sep 2020, 6:47 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive, MIM# 607259
Publications
Tag Q2_23_MOI was removed from gene: SPG7.
Source NHS GMS was added to SPG7. 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
Tag Q2_23_MOI tag was added to gene: SPG7.
Publications for gene: SPG7 were set to 25681447; 32893728; 33774748; 32161564; 31068484; 23065789; 9635427; 16534102; 17646629; 18200586, 20186691; 22571692
Publications for gene: SPG7 were set to 25681447; 32893728
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, OMIM:607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Tag Q3_22_rating was removed from gene: SPG7. Tag Q3_22_expert_review was removed from gene: SPG7.
Tag Q2_21_expert_review was removed from gene: SPG7. Tag Q3_22_rating tag was added to gene: SPG7. Tag Q3_22_expert_review tag was added to gene: SPG7.
Tag Q2_21_expert_review tag was added to gene: SPG7.
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 to Spastic paraplegia 7, autosomal recessive, OMIM:607259
Publications for gene: SPG7 were set to PMID: 25681447
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: SPG7 was added gene: SPG7 was added to Ataxia and cerebellar anomalies - narrow panel. 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 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia