| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset dystrophy for this gene to be promoted to GREEN in this panel in the next major review.; to: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset muscular dystrophy for this gene to be promoted to GREEN in this panel in the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: PYROXD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PYROXD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset dystrophy for this gene to be promoted to GREEN in this panel in the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset dystrophy for this gene to be promoted to GREEN in this panel in the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.9 | PYROXD1 | Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.8 | PYROXD1 | Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to 33694278; 30515627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.8 | PYROXD1 | Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to 33694278; 30515627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.8 | PYROXD1 | Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to PMID: 33694278; 30515627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.7 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33694278; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.1 | PYROXD1 |
Anna Sarkozy gene: PYROXD1 was added gene: PYROXD1 was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to PMID: 33694278; 30515627 Phenotypes for gene: PYROXD1 were set to muscular dystrophy Penetrance for gene: PYROXD1 were set to unknown Mode of pathogenicity for gene: PYROXD1 was set to Other Review for gene: PYROXD1 was set to GREEN Added comment: this gene is already included as green gene in the CM panel. there is body of evidence that the clinical spectrum of this gene is wider and also includes dystrophic presentations with raised CK. thus this gene should also be included in the CMD R79 panel Sources: Literature |
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