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Rhabdomyolysis and metabolic muscle disorders v3.37 | OBSCN | Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | OBSCN |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: OBSCN. Tag Q3_23_NHS_review was removed from gene: OBSCN. |
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Rhabdomyolysis and metabolic muscle disorders v3.37 | OBSCN | Eleanor Williams edited their review of gene: OBSCN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.36 | OBSCN |
Achchuthan Shanmugasundram Source Expert Review Green was added to OBSCN. Source NHS GMS was added to OBSCN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.19 | OBSCN | Achchuthan Shanmugasundram Phenotypes for gene: OBSCN were changed from {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.19 | OBSCN | Achchuthan Shanmugasundram Phenotypes for gene: OBSCN were changed from to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN |
Achchuthan Shanmugasundram Tag watchlist was removed from gene: OBSCN. Tag Q3_23_promote_green tag was added to gene: OBSCN. Tag Q3_23_NHS_review tag was added to gene: OBSCN. |
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Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Classified gene: OBSCN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Gene: obscn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Classified gene: OBSCN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.18 | OBSCN | Achchuthan Shanmugasundram Gene: obscn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.17 | OBSCN | Achchuthan Shanmugasundram Mode of inheritance for gene: OBSCN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.16 | OBSCN | Achchuthan Shanmugasundram Mode of inheritance for gene: OBSCN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.16 | OBSCN | Achchuthan Shanmugasundram Mode of inheritance for gene: OBSCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.15 | OBSCN | Achchuthan Shanmugasundram Publications for gene: OBSCN were set to 18477606 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.14 | OBSCN | Achchuthan Shanmugasundram reviewed gene: OBSCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 34957489; Phenotypes: {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.46 | OBSCN | Eleanor Williams reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | OBSCN | Sarah Leigh marked OBSCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | OBSCN | Sarah Leigh commented on OBSCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | OBSCN | Sarah Leigh classified OBSCN as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | OBSCN | Sarah Leigh classified OBSCN as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | OBSCN | Ros Quinlivan reviewed OBSCN |