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Rhabdomyolysis and metabolic muscle disorders v6.12 ISCU Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available (two unrelated cases and functional evidence from patient cells and yeast) for the association of monoallelic variants with metabolic myopathy. Hence, this gene can be promoted to green rating in the next GMS update.
Rhabdomyolysis and metabolic muscle disorders v6.12 ISCU Achchuthan Shanmugasundram Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v6.11 ISCU Achchuthan Shanmugasundram Tag Q3_26_MOI tag was added to gene: ISCU.
Rhabdomyolysis and metabolic muscle disorders v6.11 ISCU Achchuthan Shanmugasundram Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary, OMIM:255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125; hereditary myopathy with lactic acidosis due to ISCU deficiency, MONDO:0009706
Rhabdomyolysis and metabolic muscle disorders v6.10 ISCU Achchuthan Shanmugasundram Publications for gene: ISCU were set to 21165651; 22125086; 29079705
Rhabdomyolysis and metabolic muscle disorders v6.9 ISCU Achchuthan Shanmugasundram reviewed gene: ISCU: Rating: GREEN; Mode of pathogenicity: None; Publications: 29079705, 40529812; Phenotypes: Myopathy with lactic acidosis, hereditary, OMIM:255125, hereditary myopathy with lactic acidosis due to ISCU deficiency, MONDO:0009706; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v4.4 ISCU Arina Puzriakova Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary 255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125
Rhabdomyolysis and metabolic muscle disorders v4.3 ISCU Arina Puzriakova Tag for-review was removed from gene: ISCU.
Tag to_be_confirmed_NHSE was removed from gene: ISCU.
Rhabdomyolysis and metabolic muscle disorders v4.3 ISCU Arina Puzriakova edited their review of gene: ISCU: Added comment: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v4.2 ISCU Arina Puzriakova Source NHS GMS was added to ISCU.
Mode of inheritance for gene ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v1.78 ISCU Sarah Leigh commented on gene: ISCU: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Rhabdomyolysis and metabolic muscle disorders v1.78 ISCU Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: ISCU.
Rhabdomyolysis and metabolic muscle disorders v1.43 ISCU Arina Puzriakova changed review comment from: Added 'for-review' tag as the MOI has changed since previous sign-off of this panel and requires review by the Specialist Test Group.; to: Added 'for-review' tag as the MOI has changed since previous sign-off of this panel (version 1.34) and requires review by the Specialist Test Group.
Rhabdomyolysis and metabolic muscle disorders v1.43 ISCU Arina Puzriakova commented on gene: ISCU
Rhabdomyolysis and metabolic muscle disorders v1.43 ISCU Arina Puzriakova Tag for-review tag was added to gene: ISCU.
Rhabdomyolysis and metabolic muscle disorders v1.42 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant missense p.G97V variant has been reported and therefore this may represent a specific mechanism of action. Further evidence is needed to determine which (if any) other monoallelic variants will cause disease beyond mitochondrial myopathy, which justifies the mode of inheritance recorded.
Rhabdomyolysis and metabolic muscle disorders v1.42 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v1.41 ISCU Sarah Leigh Deleted their comment
Rhabdomyolysis and metabolic muscle disorders v1.41 ISCU Sarah Leigh Publications for gene: ISCU were set to 21165651; 22125086
Rhabdomyolysis and metabolic muscle disorders v1.40 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant in ISCU associated with mitochondrial myopathy, which justifies the mode of inheritance recorded.
Rhabdomyolysis and metabolic muscle disorders v1.40 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders ISCU Sarah Leigh classified ISCU as green
Rhabdomyolysis and metabolic muscle disorders ISCU Sarah Leigh marked ISCU as ready
Rhabdomyolysis and metabolic muscle disorders ISCU Sarah Leigh commented on ISCU