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Mitochondrial DNA maintenance disorder v3.7 SPG7 Ida Ertmanska Tag digenic tag was added to gene: SPG7.
Tag Q1_26_MOI tag was added to gene: SPG7.
Mitochondrial DNA maintenance disorder v3.7 SPG7 Ida Ertmanska commented on gene: SPG7: Comment on list classification: An overwhelming majority of cases with SPG7-related spastic paraplegia / spinocerebellar ataxia / optic atrophy have biallelic SPG7 variants. While several monoallelic cases have been described to date, the evidence for dominant inheritance is controversial (e.g., deep intronic SPG7 variant detectable only by WGS - PMID: 31854126; possible digenic inheritance with variants in other spasticity-related genes / SPG7-interacting genes - emerging evidence for AFG3L2 in particular - PMID: 23065789, 33598982, 33774748). Heterozygous carriers of SPG7 variants in recessive pedigrees are usually unaffected. Based on available evidence, the mode of inheritance for SPG7 should be changed to BIALLELIC, autosomal or pseudoautosomal.
Mitochondrial DNA maintenance disorder v3.7 SPG7 Ida Ertmanska reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24466038, 24767997, 26539208, 30252181, 33045469, 39978794; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM:607259, hereditary spastic paraplegia 7, MONDO:0011803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v3.3 SPG7 Sarah Leigh Tag Q2_23_MOI was removed from gene: SPG7.
Mitochondrial DNA maintenance disorder v3.3 SPG7 Sarah Leigh changed review comment from: 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).; to: 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.
Mitochondrial DNA maintenance disorder v3.3 SPG7 Sarah Leigh changed review comment from: 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, autosomal or pseudoautosomal.; to: 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).
Mitochondrial DNA maintenance disorder v3.3 SPG7 Sarah Leigh edited their review of gene: SPG7: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v3.3 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 24727571
Mitochondrial DNA maintenance disorder v3.2 SPG7 Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7.
Mitochondrial DNA maintenance disorder v3.2 SPG7 Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v3.2 SPG7 Sarah Leigh 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
Mitochondrial DNA maintenance disorder v0.3 SPG7 Ivone Leong reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24727571; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.2 SPG7 Ivone Leong gene: SPG7 was added
gene: SPG7 was added to Mitochondrial DNA maintenance disorder. 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