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| Rhabdomyolysis and metabolic muscle disorders v3.37 | DGUOK | 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 | DGUOK |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DGUOK. Tag Q3_23_NHS_review was removed from gene: DGUOK. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | DGUOK | Eleanor Williams reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | DGUOK |
Achchuthan Shanmugasundram Source Expert Review Green was added to DGUOK. Source NHS GMS was added to DGUOK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.12 | DGUOK | Achchuthan Shanmugasundram Classified gene: DGUOK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.12 | DGUOK | 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 v3.12 | DGUOK | Achchuthan Shanmugasundram Gene: dguok has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.11 | DGUOK |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DGUOK. Tag Q3_23_NHS_review tag was added to gene: DGUOK. |
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| Rhabdomyolysis and metabolic muscle disorders v3.11 | DGUOK |
Achchuthan Shanmugasundram gene: DGUOK was added gene: DGUOK was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 Review for gene: DGUOK was set to GREEN Added comment: DGUOK gene encodes mitochondrial deoxyguanosine kinase enzyme. This gene is associated with relevant phebnotypes in OMIM (MIMs #251880 & #617070). Mitochondrial myopathy and muscle weaknesses are recorded as clinical manifestations of Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (MIM #617070) in OMIM. Sources: Expert list, Expert Review |
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