Activity
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| Possible mitochondrial disorder - nuclear genes v4.19 | SPG7 |
Ida Ertmanska Tag digenic tag was added to gene: SPG7. Tag Q1_26_MOI tag was added to gene: SPG7. Tag Q1_26_NHS_review tag was added to gene: SPG7. |
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| Possible mitochondrial disorder - nuclear genes v4.19 | SPG7 | Ida Ertmanska commented on gene: SPG7: Comment on list classification: As reviewed by Lauren Turton, 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.19 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.17 | SPG7 | Lauren Turton reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.17 | SPG7 | Lauren Turton Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.17 | SPG7 | Lauren Turton reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.17 | SPG7 | Lauren Turton Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.17 | SPG7 |
Lauren Turton changed review comment from: Request mode of inheritance changed to biallelic only. In Sheffield we do not report single hits in SPG7 due to limited evidence of a monoallelic association for SPG7. We have performed a case control study using local data in Sheffield and determined no association for the common p.(Ala510Val) variant as a single hit for the disease. Evidence in the literature is extremely limited for a monoallelic MOI, and we suggest these have been reported erroneously due to the high frequency of p.(Ala510Val) in the population. MOI in OMIM was recently changed from AD/AR to AR only.; to: Request mode of inheritance changed to biallelic only. In Sheffield we do not report single hits in SPG7 due to limited evidence of a monoallelic association for SPG7. We have performed a case control study using local data in Sheffield and determined no association for the common p.(Ala510Val) variant as a single hit for the disease. Evidence in the literature is extremely limited for a monoallelic MOI, and we suggest these have been reported erroneously due to the high frequency of p.(Ala510Val) in the population. MOI in OMIM was recently changed from AD/AR to AR only. |
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| Possible mitochondrial disorder - nuclear genes v4.17 | SPG7 | Lauren Turton reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.3 | SPG7 | Sarah Leigh commented on gene: SPG7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.3 | SPG7 | Sarah Leigh Publications for gene: SPG7 were set to 24727571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | SPG7 |
Ivone Leong 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 |
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