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| Rhabdomyolysis and metabolic muscle disorders v3.37 | FLAD1 | 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 | FLAD1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: FLAD1. Tag Q3_23_NHS_review was removed from gene: FLAD1. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | FLAD1 | Eleanor Williams reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | FLAD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FLAD1. Source NHS GMS was added to FLAD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.14 | FLAD1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.14 | FLAD1 | Achchuthan Shanmugasundram Classified gene: FLAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.14 | FLAD1 | 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 v3.14 | FLAD1 | Achchuthan Shanmugasundram Gene: flad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.14 | FLAD1 | Achchuthan Shanmugasundram Classified gene: FLAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.14 | FLAD1 | 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 v3.14 | FLAD1 | Achchuthan Shanmugasundram Gene: flad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.13 | FLAD1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: FLAD1. Tag Q3_23_NHS_review tag was added to gene: FLAD1. |
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| Rhabdomyolysis and metabolic muscle disorders v3.13 | FLAD1 |
Achchuthan Shanmugasundram gene: FLAD1 was added gene: FLAD1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 Review for gene: FLAD1 was set to GREEN Added comment: FLAD1 gene encodes flavin adenine dinucleotide synthetase enzyme and it has been associated with lipid storage myopathy in OMIM (MIM #255100). This gene also has green rating in Rhabdomyolysis and Metabolic Myopathy panel from PanelApp Australia (https://panelapp.agha.umccr.org/panels/3084/gene/FLAD1/) based on the evidence of more than 10 families reported in literature. Sources: Expert list, Expert Review |
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