Activity
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15 actions
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| Stroke v1.7 | MUT | Zornitza Stark Tag treatable tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.92 | OTC | Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.91 | OTC | Zornitza Stark reviewed gene: OTC: Rating: ; Mode of pathogenicity: None; Publications: 32008222, 24850570, 23640148; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.89 | MUT | Zornitza Stark Marked gene: MUT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.89 | MUT | Zornitza Stark Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.89 | MUT | Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.88 | MUT | Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.85 | GLA | Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.83 | FLNA | Zornitza Stark Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.43 | PROS1 |
Bryony Thompson gene: PROS1 was added gene: PROS1 was added to Stroke. Sources: Literature Mode of inheritance for gene: PROS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PROS1 were set to 20484936; 25997409; 21172841; 19729839 Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency Review for gene: PROS1 was set to GREEN Added comment: At least 3 families reported with stroke and a supporting null mouse model. Sources: Literature |
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| Stroke v0.41 | PROC |
Bryony Thompson gene: PROC was added gene: PROC was added to Stroke. Sources: Literature Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PROC were set to 1511989; 20187890; 30356112; 32351850 Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency Review for gene: PROC was set to GREEN Added comment: PC deficiency is a cause for the development of stroke, particularly in young adults. Sources: Literature |
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| Stroke v0.0 | MUT |
Bryony Thompson gene: MUT was added gene: MUT was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
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| Stroke v0.0 | GLA |
Bryony Thompson gene: GLA was added gene: GLA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease |
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| Stroke v0.0 | FLNA |
Bryony Thompson gene: FLNA was added gene: FLNA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to Periventricular nodular heterotopia 1 |
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| Stroke v0.0 | OTC |
Bryony Thompson gene: OTC was added gene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine carbamoyltransferase deficiency |
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