Likely inborn error of metabolism - targeted testing not possible
Gene: SPG7The 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, 12:32 p.m. | Last Modified: 11 Oct 2023, 12:32 p.m.
Panel Version: 4.51
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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, 12:36 p.m. | Last Modified: 11 Apr 2023, 12:36 p.m.
Panel Version: 4.2
Comment on phenotypes: Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Spastic paraplegia 7, autosomal recessive, 607259;Disorders of mitochondrial DNA maintenance and integrityCreated: 11 Apr 2023, 9:37 a.m. | Last Modified: 11 Apr 2023, 9:37 a.m.
Panel Version: 4.2
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Comment on mode of inheritance: See reviewer's comment. Confirmed on OMIM.Created: 12 Feb 2016, 5:06 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 5:05 p.m.
Also, some limited evidence of monoallelic pathogenicity in some casesCreated: 27 Sep 2015, 5:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_23_MOI was removed from gene: SPG7.
Mode of inheritance for gene SPG7 was changed from BOTH monoallelic and 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 27604308
Phenotypes for gene: SPG7 were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Source NHS GMS was added to SPG7. Source London North GLH was added to SPG7.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity for gene: SPG7 Publications for gene SPG7 were changed from to 27604308
gene: SPG7 was added gene: SPG7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity