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Possible mitochondrial disorder - nuclear genes v3.89 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Possible mitochondrial disorder - nuclear genes v3.89 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.88 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Possible mitochondrial disorder - nuclear genes v3.88 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 28554942; 28544275; 29339779
Possible mitochondrial disorder - nuclear genes v3.87 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.40 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Marked gene: MSTO1 as ready
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Classified gene: MSTO1 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.154 MSTO1 Ellen McDonagh Publications for gene: MSTO1 were set to
Possible mitochondrial disorder - nuclear genes v0.134 MSTO1 Carl Fratter reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28554942, 28544275, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Classified gene: MSTO1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.5 MSTO1 Ivone Leong reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.2 MSTO1 Ivone Leong gene: MSTO1 was added
gene: MSTO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675