Mitochondrial disorders
Gene: SPG7Removed the Q2_23_MOI tag as the mode of inheritance for this gene has been updated to Both mono and bi-allelic.Created: 17 Oct 2023, 2:09 p.m. | Last Modified: 17 Oct 2023, 2:09 p.m.
Panel Version: 4.99
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, 9:52 a.m. | Last Modified: 11 Oct 2023, 9:52 a.m.
Panel Version: 4.95
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, 12:56 p.m. | Last Modified: 11 Apr 2023, 12:56 p.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.
Source NHS GMS was added to 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
Publications for gene: SPG7 were set to
Tag Q2_23_MOI tag was added to gene: SPG7.
Phenotypes for gene: SPG7 were changed from Disorders of mitochondrial DNA maintenance and integrity; Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Victorian Clinical Genetics Services was added to SPG7. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for SPG7 were set to Disorders of mitochondrial DNA maintenance and integrity; Spastic paraplegia 7, autosomal recessive, 607259
Mode of inheritance for SPG7 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SPG7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
SPG7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
SPG7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen