Possible mitochondrial disorder - nuclear genes
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, 12:41 p.m. | Last Modified: 11 Apr 2023, 12:41 p.m.
Panel Version: 3.3
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Publications
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
Publications for gene: SPG7 were set to 24727571
Phenotypes for gene: SPG7 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
gene: SPG7 was added gene: SPG7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPG7 were set to 24727571 Phenotypes for gene: SPG7 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions