Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Rhabdomyolysis and metabolic muscle disorders v3.48 | HADHB | Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.47 | HADHB | Achchuthan Shanmugasundram Publications for gene: HADHB were set to 25929793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.46 | TAMM41 | Achchuthan Shanmugasundram Classified gene: TAMM41 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.46 | TAMM41 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.46 | TAMM41 | Achchuthan Shanmugasundram Gene: tamm41 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.45 | TAMM41 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TAMM41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.45 | TAMM41 |
Achchuthan Shanmugasundram gene: TAMM41 was added gene: TAMM41 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494 Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency 56, OMIM:620139 Review for gene: TAMM41 was set to GREEN Added comment: PMID:35321494 reported three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. Two of these three individuals were reported with myopathy (proximal and distal in one and proximal in other). They were identified with compound heterozygous variants in TAMM41 gene. In addition, tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. Sources: Literature |
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Rhabdomyolysis and metabolic muscle disorders v3.44 | ABHD5 |
Achchuthan Shanmugasundram changed review comment from: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. This gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. As the myopathy was caused by metabolic deficiency, this gene should be added to this panel. Sources: Literature; to: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. This gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. As myopathy is caused by metabolic deficiency, this gene should be added to this panel. Sources: Literature |
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Rhabdomyolysis and metabolic muscle disorders v3.44 | ABHD5 |
Achchuthan Shanmugasundram changed review comment from: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. This gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. Sources: Literature; to: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. This gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. As the myopathy was caused by metabolic deficiency, this gene should be added to this panel. Sources: Literature |
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Rhabdomyolysis and metabolic muscle disorders v3.44 | ABHD5 | Achchuthan Shanmugasundram Classified gene: ABHD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.44 | ABHD5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in this panel in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.44 | ABHD5 | Achchuthan Shanmugasundram Gene: abhd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.43 | ABHD5 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ABHD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.43 | ABHD5 |
Achchuthan Shanmugasundram gene: ABHD5 was added gene: ABHD5 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 33455044 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, OMIM:275630 Review for gene: ABHD5 was set to GREEN Added comment: Chanarin-Dorfman is a neutral lipid storage disorder. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. This gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources. Sources: Literature |
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Rhabdomyolysis and metabolic muscle disorders v3.42 | PNPLA2 | Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.42 | PNPLA2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of cases associating biallelic PNPLA2 variants to muscle and upper and lower limb weakness and dystrophy of shoulder girdle. Hence, this gene can be promoted to GREEN in this panel at the next GMS update. This gene has also been associated with phenotypes in both OMIM (MIM #610717) and Gene2Phenotype (with 'strong' rating in DD panel). |
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Rhabdomyolysis and metabolic muscle disorders v3.42 | PNPLA2 | Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.41 | PNPLA2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.41 | PNPLA2 | Achchuthan Shanmugasundram Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy 610717 to Neutral lipid storage disease with myopathy, OMIM:610717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.40 | PNPLA2 |
Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PNPLA2. Tag Q4_23_promote_green tag was added to gene: PNPLA2. |
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Rhabdomyolysis and metabolic muscle disorders v3.40 | PNPLA2 | Achchuthan Shanmugasundram Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.40 | PNPLA2 |
Achchuthan Shanmugasundram gene: PNPLA2 was added gene: PNPLA2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Amber Q2_23_promote_green tags were added to gene: PNPLA2. Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 21544567; 25956450; 32269696 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717 |
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Rhabdomyolysis and metabolic muscle disorders v3.39 | HADHB | Dmitrijs Rots reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35403730; Phenotypes: episodic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Eleanor Williams commented on gene: MT-CO2: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:23616164 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO2 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams commented on gene: MT-CO1: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:25929793 to make sure it is the same gene listed in the publication as on this panel. The gene name in this publication is COX1 but this is an alias name for MT-CO1(https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419) , and therefore it is likely this is the correct gene. Added the gene-checked tag | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | MT-CO2 | Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" 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 "MITOCHONDRIAL" following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" 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 "MITOCHONDRIAL" following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 | COQ8A | 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 | COQ4 | 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 | CHKB | 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 | AMPD1 | 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 | MLIP | 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 | 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 | MT-CO2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MT-CO2. Tag Q3_23_NHS_review was removed from gene: MT-CO2. |
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Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MT-CO1. Tag Q3_23_NHS_review was removed from gene: MT-CO1. |
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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 | COQ8A |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: COQ8A. Tag Q3_23_NHS_review was removed from gene: COQ8A. |
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Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ4 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: COQ4. Tag Q3_23_NHS_review was removed from gene: COQ4. |
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Rhabdomyolysis and metabolic muscle disorders v3.37 | CHKB |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CHKB. Tag Q3_23_NHS_review was removed from gene: CHKB. |
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Rhabdomyolysis and metabolic muscle disorders v3.37 | AMPD1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AMPD1. Tag Q3_23_NHS_review was removed from gene: AMPD1. |
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Rhabdomyolysis and metabolic muscle disorders v3.37 | MLIP | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: MLIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v3.37 | MT-CO2 | Eleanor Williams reviewed gene: MT-CO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MT-CO1 | Eleanor Williams reviewed gene: MT-CO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | MLIP | Eleanor Williams reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v3.37 | 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 v3.37 | COQ8A | Eleanor Williams reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | COQ4 | Eleanor Williams reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | CHKB | Eleanor Williams reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.37 | AMPD1 | Eleanor Williams reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v3.36 | MT-CO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MT-CO2. Source NHS GMS was added to MT-CO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.36 | MT-CO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MT-CO1. Source NHS GMS was added to MT-CO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.36 | MLIP |
Achchuthan Shanmugasundram Source Expert Review Green was added to MLIP. Source NHS GMS was added to MLIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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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 v3.36 | 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 v3.36 | COQ8A |
Achchuthan Shanmugasundram Source Expert Review Green was added to COQ8A. Source NHS GMS was added to COQ8A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.36 | COQ4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4. Source NHS GMS was added to COQ4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.36 | CHKB |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHKB. Source NHS GMS was added to CHKB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.36 | AMPD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AMPD1. Source NHS GMS was added to AMPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v3.35 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.35 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.35 | AMPD1 | Zornitza Stark reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.35 | MYH1 | Achchuthan Shanmugasundram Classified gene: MYH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.35 | MYH1 | Achchuthan Shanmugasundram Gene: myh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.34 | MYH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.33 | MYH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.33 | MYH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.32 | MYH1 | Achchuthan Shanmugasundram Mode of inheritance for gene: MYH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.31 | MYH1 | Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, there is one patient identified with homozygous MYH1 variant and a horse model with the same phenotype. Hence, this gene can be rated amber for now.; to: There is one patient identified with homozygous MYH1 variant (c.1295A>C; p.Lys432Thr) and a horse model with the same phenotype. Hence, this gene can be rated amber for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.31 | MYH1 | Achchuthan Shanmugasundram Publications for gene: MYH1 were set to PMID: 33755318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.30 | MYH1 | Achchuthan Shanmugasundram Phenotypes for gene: MYH1 were changed from rhabdomyolysis, MONDO:0005290 to rhabdomyolysis, MONDO:0005290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.29 | MYH1 | Achchuthan Shanmugasundram Phenotypes for gene: MYH1 were changed from Rhabdomyolysis to rhabdomyolysis, MONDO:0005290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.28 | MYH1 | Achchuthan Shanmugasundram reviewed gene: MYH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33755318; Phenotypes: rhabdomyolysis, MONDO:0005290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.28 | COQ8A | Achchuthan Shanmugasundram Classified gene: COQ8A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.28 | COQ8A | 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 v3.28 | COQ8A | Achchuthan Shanmugasundram Gene: coq8a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.27 | COQ8A |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: COQ8A. Tag Q3_23_NHS_review tag was added to gene: COQ8A. |
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Rhabdomyolysis and metabolic muscle disorders v3.27 | COQ8A |
Achchuthan Shanmugasundram gene: COQ8A was added gene: COQ8A was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 26818466; 22036850; 18319074; 18319072; 32337771 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, OMIM:612016 Review for gene: COQ8A was set to GREEN Added comment: Coenzyme Q10 deficiency is a heterogeneous disease with multple causal genes, typically inherited in an autosomal recessive pattern (including COQ8A/ADCK3). Variants in COQ8A cause a juvenile-onset cerebellar ataxia with primary CoQ10 deficiency. Some patients display muscle weakness and exercise intolerance (typically with elevated serum lactate) early in the course of disease but it is not clear if this is associated with rhabdomyolysis although this may be plausible following physical exertion. PMID:32337771 reported a cohort of 59 individuals with 44 pathogenic COQ8A variants and presenting with variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus. Sources: Expert list, Expert Review |
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Rhabdomyolysis and metabolic muscle disorders v3.26 | MT-CO1 | Achchuthan Shanmugasundram Phenotypes for gene: MT-CO1 were changed from Leber hereditary optic neuropathy; Myoglobinuria to Leber hereditary optic neuropathy, MONDO:0010788; myoglobinuria, MONDO:0000866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO1 | Achchuthan Shanmugasundram edited their review of gene: MT-CO1: Changed phenotypes to: Leber hereditary optic neuropathy, MONDO:0010788, myoglobinuria, MONDO:0000866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MT-CO2. Tag Q3_23_NHS_review tag was added to gene: MT-CO2. |
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Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO2 | Achchuthan Shanmugasundram Classified gene: MT-CO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.25 | MT-CO2 | 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 v3.25 | MT-CO2 | Achchuthan Shanmugasundram Gene: mt-co2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.24 | MT-CO2 |
Achchuthan Shanmugasundram gene: MT-CO2 was added gene: MT-CO2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Publications for gene: MT-CO2 were set to 14733964; 23616164; 25929793; 28521807 Phenotypes for gene: MT-CO2 were set to Cytochrome oxidase deficiency; rhabdomyolysis, MONDO:0005290; myoglobinuria, MONDO:0000866 Review for gene: MT-CO2 was set to GREEN Added comment: Sources: Expert list, Expert Review |
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Rhabdomyolysis and metabolic muscle disorders v3.23 | MT-CO1 | Achchuthan Shanmugasundram Classified gene: MT-CO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.23 | MT-CO1 | 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 v3.23 | MT-CO1 | Achchuthan Shanmugasundram Gene: mt-co1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.22 | MT-CO1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MT-CO1. Tag Q3_23_NHS_review tag was added to gene: MT-CO1. |
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Rhabdomyolysis and metabolic muscle disorders v3.22 | MT-CO1 |
Achchuthan Shanmugasundram gene: MT-CO1 was added gene: MT-CO1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Publications for gene: MT-CO1 were set to 10980727; 25929793 Phenotypes for gene: MT-CO1 were set to Leber hereditary optic neuropathy; Myoglobinuria Review for gene: MT-CO1 was set to GREEN Added comment: Sources: Expert list, Expert Review |
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Rhabdomyolysis and metabolic muscle disorders v3.21 | COQ4 | Achchuthan Shanmugasundram Classified gene: COQ4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.21 | COQ4 | 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 v3.21 | COQ4 | Achchuthan Shanmugasundram Gene: coq4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.20 | COQ4 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: COQ4. Tag Q3_23_NHS_review tag was added to gene: COQ4. |
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Rhabdomyolysis and metabolic muscle disorders v3.20 | COQ4 | Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed publications to: 28472853, 26185144, 25658047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.20 | COQ4 |
Achchuthan Shanmugasundram gene: COQ4 was added gene: COQ4 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Review for gene: COQ4 was set to GREEN Added comment: Coenzyme Q10 deficiency is a heterogeneous disease with multple causal genes, typically inherited in an autosomal recessive pattern (including COQ4). Literature review revealed only one patient who had displayed lethal rhabdomyolysis but importantly this individual only harboured a single heterozygous c.483 G >C (p.E161D) variant in COQ4 (PMID: 28472853) Sources: Expert list, Expert Review |
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Rhabdomyolysis and metabolic muscle disorders v3.19 | CHKB | Achchuthan Shanmugasundram changed review comment from: 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.; to: Comment on list classification: This gene is proposed for promotion to green rating 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 v3.19 | 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 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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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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Rhabdomyolysis and metabolic muscle disorders v3.10 | CHKB | Achchuthan Shanmugasundram Classified gene: CHKB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.10 | CHKB | 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 v3.10 | CHKB | Achchuthan Shanmugasundram Gene: chkb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.9 | CHKB |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CHKB. Tag Q3_23_NHS_review tag was added to gene: CHKB. |
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Rhabdomyolysis and metabolic muscle disorders v3.9 | CHKB |
Achchuthan Shanmugasundram gene: CHKB was added gene: CHKB was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 37011121 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, OMIM:602541 Review for gene: CHKB was set to GREEN Added comment: CHKB encodes choline kinase beta enzyme and it has been associated with congenital muscular dystrophy in OMIM (MIM #602541). PMID:37011121 - 44 cases with biallelic CHKB variants had congenital muscular dystrophy and 3 cases had limb-girdle muscular dystrophy. Of these 3 cases with LGMD, two had presented with adolescent- or adult-onset rhabdomyolysis. Sources: Expert list, Expert Review |
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Rhabdomyolysis and metabolic muscle disorders v3.8 | AMPD1 | Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: AMPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.8 | AMPD1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AMPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.8 | AMPD1 | Achchuthan Shanmugasundram Classified gene: AMPD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.8 | AMPD1 | 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 v3.8 | AMPD1 | Achchuthan Shanmugasundram Gene: ampd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.7 | AMPD1 | Achchuthan Shanmugasundram reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy due to myoadenylate deaminase deficiency, OMIM:615511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.7 | SLC22A5 | Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.7 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.7 | SLC22A5 | Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.7 | SLC22A5 | Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.7 | SLC22A5 | Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.6 | SLC22A5 | Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.6 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 25929793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.5 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed rating: GREEN; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.5 | ETFB | Sarah Leigh Publications for gene: ETFB were set to 25929793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.4 | ETFB | Sarah Leigh Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.3 | ETFA | Sarah Leigh Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.2 | SUCLA2 | Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | SGCA | Arina Puzriakova Tag Q1_22_rating was removed from gene: SGCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | SCN4A | Arina Puzriakova Tag Q1_22_rating was removed from gene: SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | GMPPB | Arina Puzriakova Tag Q3_21_rating was removed from gene: GMPPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | FDX2 | Arina Puzriakova Tag Q3_21_rating was removed from gene: FDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | CPT2 | Arina Puzriakova Tag Q1_22_MOI was removed from gene: CPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | CAV3 | Arina Puzriakova Tag Q3_21_MOI was removed from gene: CAV3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | TSEN54 |
Arina Puzriakova Tag Q2_21_rating was removed from gene: TSEN54. Tag Q2_21_expert_review was removed from gene: TSEN54. |
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Rhabdomyolysis and metabolic muscle disorders v2.5 | PHKB |
Arina Puzriakova Tag Q4_21_rating was removed from gene: PHKB. Tag Q4_21_phenotype was removed from gene: PHKB. Tag Q2_22_expert_review was removed from gene: PHKB. |
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Rhabdomyolysis and metabolic muscle disorders v2.5 | FKTN |
Arina Puzriakova Tag Q3_22_rating was removed from gene: FKTN. Tag Q3_22_expert_review was removed from gene: FKTN. |
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Rhabdomyolysis and metabolic muscle disorders v2.5 | SGCA | Arina Puzriakova edited their review of gene: SGCA: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | SCN4A | Arina Puzriakova edited their review of gene: SCN4A: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | GMPPB | Arina Puzriakova reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | FDX2 | Arina Puzriakova reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | CPT2 | Arina Puzriakova commented on gene: CPT2: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | CAV3 | Arina Puzriakova commented on gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | TSEN54 | Arina Puzriakova commented on gene: TSEN54: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | PHKB | Arina Puzriakova reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.5 | FKTN | Arina Puzriakova reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.4 | TSEN54 |
Arina Puzriakova Source Expert Review Red was added to TSEN54. Source NHS GMS was added to TSEN54. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | SGCA |
Arina Puzriakova Source Expert Review Green was added to SGCA. Source NHS GMS was added to SGCA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | SCN4A |
Arina Puzriakova Source Expert Review Green was added to SCN4A. Source NHS GMS was added to SCN4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | PHKB |
Arina Puzriakova Source Expert Review Red was added to PHKB. Source NHS GMS was added to PHKB. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | GMPPB |
Arina Puzriakova Source Expert Review Green was added to GMPPB. Source NHS GMS was added to GMPPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | FKTN |
Arina Puzriakova Source Expert Review Red was added to FKTN. Source NHS GMS was added to FKTN. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | FDX2 |
Arina Puzriakova Source Expert Review Green was added to FDX2. Source NHS GMS was added to FDX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | CPT2 |
Arina Puzriakova Source NHS GMS was added to CPT2. Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Rhabdomyolysis and metabolic muscle disorders v2.4 | CAV3 |
Arina Puzriakova Source NHS GMS was added to CAV3. Mode of inheritance for gene CAV3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Rhabdomyolysis and metabolic muscle disorders v2.3 | MLIP | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: MLIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.3 | MLIP | Achchuthan Shanmugasundram Classified gene: MLIP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.3 | MLIP | Achchuthan Shanmugasundram Gene: mlip has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.2 | MLIP |
Achchuthan Shanmugasundram gene: MLIP was added gene: MLIP was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 34581780; 34935254; 35672413; 35915960; 35942668 Phenotypes for gene: MLIP were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Review for gene: MLIP was set to GREEN Added comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in rhabdomyolysis, as identified from biallelic variants from four unrelated cases from multiple ethnicities. Seven patients from six families carrying six different biallelic (either homozygous or compound heterozygous) variants in MLIP gene were presented with a consistent phenotype including mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis (reported in five individuals from four families), and persistent basal elevated serum creatine kinase (CK) levels. The age of onset of symptoms ranged from 8 months to 7 years (PMID:34581780). However, patients carrying biallelic variants in MLIP gene were not reported with rhabdomyolysis in other studies (PMID:34935254; PMID:35672413; PMID:35915960). The association of MLIP to rhabdomyolysis has now been documented in OMIM (#620138). Sources: Literature |
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Rhabdomyolysis and metabolic muscle disorders v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.78 | FKTN | Eleanor Williams commented on gene: FKTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.78 | FKTN |
Eleanor Williams Tag Q4_21_expert_review was removed from gene: FKTN. Tag Q3_22_rating tag was added to gene: FKTN. Tag Q3_22_expert_review tag was added to gene: FKTN. |
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Rhabdomyolysis and metabolic muscle disorders v1.78 | TSEN54 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: TSEN54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.78 | PHKB | Sarah Leigh Tag Q2_22_expert_review tag was added to gene: PHKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.78 | FDX2 | Dmitrijs Rots reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35079622; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.78 | TANGO2 | Eleanor Williams Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.77 | TANGO2 | Eleanor Williams Tag for-review was removed from gene: TANGO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.77 | TANGO2 | Sarah Leigh commented on gene: TANGO2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.76 | TANGO2 |
Eleanor Williams Source Expert Review Green was added to TANGO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rhabdomyolysis and metabolic muscle disorders v1.75 | TSEN54 | Arina Puzriakova changed review comment from: Literature search showed that rhabdomyolysis has been identified in 6 PCH-2 patients (PMIDs: 17825555; 23177318); however, only one of these individuals has a confirmed variant in TSEN54 (PMID: 23177318). Subsequent reports describing >50 individuals with TSEN54-related PCH do not provide any evidence of rhabdomyolysis in these cases (PMIDs: 20956791; 20952379).; to: Literature search showed that rhabdomyolysis has been identified in 3 PCH-2 patients (PMIDs: 17825555; 23177318); however, only one of these individuals was genetically confirmed with variants in TSEN54 (PMID: 23177318). Subsequent reports describing >50 individuals with TSEN54-related PCH do not provide any evidence of rhabdomyolysis in these cases (PMIDs: 20956791; 20952379). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.75 | PRKAG2 | Arina Puzriakova commented on gene: PRKAG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.75 | TYMP | Arina Puzriakova commented on gene: TYMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.75 | TYMP | Arina Puzriakova Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.74 | TSFM | Arina Puzriakova commented on gene: TSFM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.74 | SGCA | Arina Puzriakova Classified gene: SGCA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.74 | SGCA | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases including muscle weakness, exercise intolerance, myalgia, myoglobinuria, and hyperCKemia. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.74 | SGCA | Arina Puzriakova Gene: sgca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.73 | SGCA | Arina Puzriakova Tag Q1_22_rating tag was added to gene: SGCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.73 | SGCA | Arina Puzriakova Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 to Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Tag Q1_22_rating tag was added to gene: SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Classified gene: SCN4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases of SCN4A-related muscle disorders. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Gene: scn4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.71 | POLG | Arina Puzriakova Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450 to Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.70 | HADHA | Arina Puzriakova Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency 609015 to Mitochondrial trifunctional protein deficiency, OMIM:609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.69 | GYS1 | Arina Puzriakova Phenotypes for gene: GYS1 were changed from Glycogen storage disease 0, muscle 611556 to Glycogen storage disease 0, muscle, OMIM:611556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.68 | ENO3 | Arina Puzriakova Phenotypes for gene: ENO3 were changed from ?Glycogen storage disease XIII 612932 to Glycogen storage disease XIII, OMIM:612932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.67 | DYSF | Arina Puzriakova Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768 to Miyoshi muscular dystrophy 1, OMIM:254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Myopathy, distal, with anterior tibial onset, OMIM:606768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.66 | CYP2C8 | Arina Puzriakova Phenotypes for gene: CYP2C8 were changed from Rhabdomyolysis, cerivastatin-induced to {Drug metabolism, altered, CYP2C8-related}, OMIM:618018; Rhabdomyolysis, cerivastatin-induced | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.65 | CPT2 | Arina Puzriakova Publications for gene: CPT2 were set to 25929793; 23911907; 10873395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.64 | CPT2 | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: CPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.64 | CPT2 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS review. Although most cases are associated with biallelic variants, symptomatic heterozygous patients have also been described (PMID: 15622536; 21913903; 23184072; 24843804). Severity of symptoms tends to correlate with residual CPT enzyme activity but it is plausible that heterozygotes may still be tested under this panel. Both MOIs are listed in OMIM for this phenotype (MIM# 255110) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.64 | CPT2 | Arina Puzriakova Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.63 | CPT2 | Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 to CPT II deficiency, myopathic, stress-induced, OMIM:255110; Exercise intolerance and rhabdomyolysis, late onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.62 | ALDOA | Arina Puzriakova Phenotypes for gene: ALDOA were changed from Glycogen storage disease XII 611881 to Glycogen storage disease XII, OMIM:611881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.61 | ACADVL | Arina Puzriakova Phenotypes for gene: ACADVL were changed from VLCAD deficiency 201475 to VLCAD deficiency, OMIM:201475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.60 | RBCK1 | Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency 615895 to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.59 | PHKB | Sarah Leigh edited their review of gene: PHKB: Added comment: Although pathogenic variants in PHKB result in reduced levels of phosphorylase kinase in the liver and muscle, it would appear that this results in hepatomegaly and minimal effect on the muscles (PMID 9215682 & 30397902).; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.59 | PHKB | Sarah Leigh Publications for gene: PHKB were set to 27604308; 9215682; 30397902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.58 | PHKB |
Sarah Leigh Tag Q4_21_rating tag was added to gene: PHKB. Tag Q4_21_phenotype tag was added to gene: PHKB. |
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Rhabdomyolysis and metabolic muscle disorders v1.58 | PHKB | Sarah Leigh Publications for gene: PHKB were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.57 | FKTN | Sarah Leigh commented on gene: FKTN: Q4_21_expert_review tag has been added to this gene. Helen Brittain (Genomics England Clinical Fellow) has suggested that the rating of this gene should be considered by TEWG oversight committee, in response to Zornitza Stark's Red review, that Rhabdomyolysis is not a significant feature of this muscle disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.57 | FKTN | Sarah Leigh Tag Q4_21_expert_review tag was added to gene: FKTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.57 | MYH1 |
Dmitrijs Rots gene: MYH1 was added gene: MYH1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: MYH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH1 were set to PMID: 33755318 Phenotypes for gene: MYH1 were set to Rhabdomyolysis Penetrance for gene: MYH1 were set to unknown Mode of pathogenicity for gene: MYH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MYH1 was set to AMBER Added comment: One patient reported with some statistical evidence and known horse "model" with same phenotype. Sources: Literature |
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Rhabdomyolysis and metabolic muscle disorders v1.57 | CAV3 | Ivone Leong Publications for gene: CAV3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.56 | CAV3 | Ivone Leong Tag Q3_21_MOI tag was added to gene: CAV3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.56 | CAV3 |
Ivone Leong edited their review of gene: CAV3: Added comment: MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown". PMID: 9536092, reported one patient with homozygous G56S. The patient was the only member of the family to be affected by disease (proximal muscle weakness in the first decade of life). The variant was not found in 200 controls. The patient's skeletal muscle biopsy looked normal and expression of dystrophin, sarcoglycans and caveolin-3 was normal. This variant was later reclassified as a VUS as PMID:11251997 identified 2 Brazilian patients with LGMD with heterozygous G55S. Both patients had onset in adulthood, calf hypertrophy, elevated creatine kinase, and difficulty walking. Muscle protein analyses from both patients were normal. Screening 200 normal controls showed 4 controls also had this variant. In OMIM: "Hamosh (2018) found that the G55S variant was present in heterozygous state in 3,142 of 277,064 alleles and in 184 homozygotes in the gnomAD database (January 24, 2018), calling into question the pathogenicity of the variant." PMID: 12666119, reported an Italian patient with severe rippling muscle disease (A92T) who was AR. Actually A93T. PMID: 15668980, the same authors of PMID: 12666119 reported 1 family with 2 affected sibs who have AR rippling muscle disease (same variant as above A92T). Unaffected parents were both heterozygous for the variant. The authors note that the parents were not known to be consanguineous but they are from the same small village in Germany. The authors also did a haplotype analysis and showed that this variant arose separately from the Italian case, suggesting that A92 might be a mutation hot spot. According to ClinVar, this variant has conflicting interpretations of pathogenicity (https://www.ncbi.nlm.nih.gov/clinvar/variation/8285/). PMID: 16730439, reports on 1 patient (AR) with mild proximal muscle weakness of the lower limbs. No other family members were available for further analysis. Patient is homozygous for a splice variant (IVS1+2T>C). While there are cases of biallelic variants causing disease there are currently no new cases reporting of this (newest report was in 2006). There is currently not enough evidence to support biallelic cause of disease, I suggest changing the MOI to Monoallelic until more evidence is available.; Changed publications to: 15668980, 12666119, 9536092, 11251997, 16730439; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Rhabdomyolysis and metabolic muscle disorders v1.56 | GMPPB | Sarah Leigh Tag Q3_21_rating tag was added to gene: GMPPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.56 | GMPPB | Sarah Leigh edited their review of gene: GMPPB: Added comment: Associated with relevant phenotype in OMIM, but not associated with the phenotype in Gen2Phen (although it has a confirmed association with OMIM:615350). At least nine variants reported in at least eight cases, supportive functional studies were also presented (PMID 23768512;26133662).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.56 | GMPPB | Sarah Leigh Classified gene: GMPPB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.56 | GMPPB | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.56 | GMPPB | Sarah Leigh Gene: gmppb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.55 | GMPPB | Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.54 | GMPPB | Sarah Leigh Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.53 | GMPPB | Sarah Leigh Publications for gene: GMPPB were set to 28456886; 27874200; 25681410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.52 | GMPPB | Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.51 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, OMIM:232500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Tag Q3_21_rating tag was added to gene: FDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh edited their review of gene: FDX2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases that included rhabdomyolysis (PMID: 24281368; 30010796; 28803783).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Classified gene: FDX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.50 | FDX2 | Sarah Leigh Gene: fdx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.49 | FDX2 | Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.49 | FDX2 | Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.48 | CAV3 |
Ivone Leong Added comment: Comment on phenotypes: Previously: Muscular dystrophy, limb-girdle, type IC 607801;Myopathy, distal, Tateyama type 614321;Rippling muscle disease 606072 |
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Rhabdomyolysis and metabolic muscle disorders v1.48 | CAV3 | Ivone Leong Phenotypes for gene: CAV3 were changed from Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321; Rippling muscle disease, OMIM:606072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.47 | CACNA1S | Ivone Leong Phenotypes for gene: CACNA1S were changed from {Malignant hyperthermia susceptibility 5}, 601887 to {Malignant hyperthermia susceptibility 5}, OMIM:601887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.46 | TSEN54 | Arina Puzriakova Classified gene: TSEN54 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.46 | TSEN54 | Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel review - only a single patient reported to date, with rhabdomyolysis and a homozygous TSEN54 variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.46 | TSEN54 | Arina Puzriakova Gene: tsen54 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.45 | TSEN54 | Arina Puzriakova Phenotypes for gene: TSEN54 were changed from ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753 to Pontocerebellar hypoplasia type 2A, OMIM:277470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.44 | TSEN54 | Arina Puzriakova Publications for gene: TSEN54 were set to 25929793; 18711368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.43 | TSEN54 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: TSEN54. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.43 | TSEN54 | Arina Puzriakova reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: 23177318; Phenotypes: Pontocerebellar hypoplasia type 2A, OMIM:277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.43 | TANGO2 | Arina Puzriakova Classified gene: TANGO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.43 | TANGO2 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.43 | TANGO2 | Arina Puzriakova Gene: tango2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | TANGO2 | Arina Puzriakova Tag for-review tag was added to gene: TANGO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | TYMP | Zornitza Stark reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: 24199812; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | TSFM | Zornitza Stark reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: 31267352, 17033963; Phenotypes: Combined oxidative phosphorylation deficiency 3 MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | TSEN54 | Zornitza Stark reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: 23177318; Phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | SGCA |
Zornitza Stark gene: SGCA was added gene: SGCA was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 27297959; 26453141; 23989969 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Review for gene: SGCA was set to GREEN gene: SGCA was marked as current diagnostic Added comment: Four unrelated cases reported with rhabdomyolysis or exercise intolerance. Sources: Expert list |
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Rhabdomyolysis and metabolic muscle disorders v1.42 | SCN4A |
Zornitza Stark gene: SCN4A was added gene: SCN4A was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN4A were set to 23801527; 28779239; 32978841 Phenotypes for gene: SCN4A were set to SCN4A-related muscle disorders Review for gene: SCN4A was set to GREEN gene: SCN4A was marked as current diagnostic Added comment: SCN4A variants are associated with a number of disorders disorders of abnormal skeletal muscle relaxation and contraction and rhabdomyolysis is specifically reported. Sources: Expert list |
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Rhabdomyolysis and metabolic muscle disorders v1.42 | PRKAG2 | Zornitza Stark reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6 600858, Glycogen storage disease of heart, lethal congenital 261740, Wolff-Parkinson-White syndrome 194200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | PHKB | Zornitza Stark reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: None; Publications: 9215682, 30397902; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive MIM#261750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | GMPPB |
Zornitza Stark gene: GMPPB was added gene: GMPPB was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 28456886; 27874200; 25681410 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria Review for gene: GMPPB was set to GREEN gene: GMPPB was marked as current diagnostic Added comment: Three unrelated cases reported with rhabdomyolysis in the context of this muscle disorder. Sources: Expert list |
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Rhabdomyolysis and metabolic muscle disorders v1.42 | FKTN | Zornitza Stark reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: 25929793; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | FDX2 |
Zornitza Stark gene: FDX2 was added gene: FDX2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 24281368; 30010796; 28803783 Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Review for gene: FDX2 was set to GREEN Added comment: Three unrelated cases reported with rhabdomyolysis/myoglobinuria. Sources: Expert list |
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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 v1.39 | DMD | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.39 | TANGO2 | Sarah Leigh edited their review of gene: TANGO2: Added comment: Gene suggested by Rowenna Roberts, Clinical Scientist.; Changed phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.39 | TANGO2 | Sarah Leigh Classified gene: TANGO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.39 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.38 | TANGO2 |
Sarah Leigh gene: TANGO2 was added gene: TANGO2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert Review Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 30245509 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Review for gene: TANGO2 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 14 unrelated cases, in which rabdomyolysis was reported in 11 unrelated cases. Sources: Expert Review |
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Rhabdomyolysis and metabolic muscle disorders v1.36 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.34 | Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.33 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.32 | Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.30 | Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.29 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.28 | POLG2 | Sarah Leigh Publications for gene: POLG2 were set to 25929793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.27 | POLG2 | Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.27 | POLG2 | Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.25 | ETFA | Louise Daugherty Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA 231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.24 | TK2 | Louise Daugherty Added comment: Comment on phenotypes: changed phenotype to Mitochondrial DNA depletion syndrome 2 (myopathic type), as Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 relates to variants of the gene SUCLA2, not TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.24 | TK2 | Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.22 |
Ellen McDonagh List of related panels changed from to Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
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Rhabdomyolysis and metabolic muscle disorders | DMD | Ellen McDonagh commented on DMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG1 | Louise Daugherty commented on POLG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGAM2 | Richard Kirk edited their review of PGAM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYG1 | Richard Kirk edited their review of GYG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYS1 | Richard Kirk edited their review of GYS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKA1 | Richard Kirk edited their review of PHKA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PFKM | Richard Kirk edited their review of PFKM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PYGM | Richard Kirk edited their review of PYGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GAA | Richard Kirk edited their review of GAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AGL | Richard Kirk edited their review of AGL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACADVL | Richard Kirk reviewed ACADVL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RBCK1 | Richard Kirk reviewed RBCK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGM1 | Richard Kirk reviewed PGM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LDHA | Richard Kirk reviewed LDHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ENO3 | Richard Kirk reviewed ENO3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ALDOA | Richard Kirk reviewed ALDOA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGAM2 | Richard Kirk reviewed PGAM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYG1 | Richard Kirk reviewed GYG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGK1 | Richard Kirk reviewed PGK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYS1 | Richard Kirk reviewed GYS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKA1 | Richard Kirk reviewed PHKA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PFKM | Richard Kirk reviewed PFKM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PYGM | Richard Kirk reviewed PYGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GBE1 | Richard Kirk reviewed GBE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AGL | Richard Kirk reviewed AGL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GAA | Richard Kirk reviewed GAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKG1 | Sarah Leigh reviewed PHKG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FBP2 | Sarah Leigh reviewed FBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FBP2 | Richard Kirk reviewed FBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKG1 | Richard Kirk reviewed PHKG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TSFM | Sarah Leigh classified TSFM as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TSFM | Sarah Leigh added TSFM to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TSFM | Sarah Leigh reviewed TSFM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGK1 | Sarah Leigh marked PGK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | Sarah Leigh promoted panel to version 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC2A9 | Sarah Leigh marked SLC2A9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC2A9 | Sarah Leigh commented on SLC2A9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC2A9 | Sarah Leigh classified SLC2A9 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC22A12 | Sarah Leigh marked SLC22A12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC22A12 | Sarah Leigh commented on SLC22A12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC22A12 | Sarah Leigh classified SLC22A12 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | CYP2C8 | Sarah Leigh edited their review of CYP2C8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CYP2C8 | Sarah Leigh commented on CYP2C8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RBCK1 | Sarah Leigh classified RBCK1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RBCK1 | Sarah Leigh marked RBCK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RBCK1 | Sarah Leigh commented on RBCK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CAV3 | Sarah Leigh marked CAV3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CAV3 | Sarah Leigh commented on CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG1 | Sarah Leigh classified POLG1* as grey | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG1 | Sarah Leigh commented on POLG1* | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYG1 | Sarah Leigh marked GYG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYG1 | Sarah Leigh commented on GYG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYG1 | Sarah Leigh classified GYG1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC2A9 | Ros Quinlivan reviewed SLC2A9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC22A12 | Ros Quinlivan reviewed SLC22A12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG1 | Ros Quinlivan reviewed POLG1* | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | OBSCN | Ros Quinlivan reviewed OBSCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CYP2C8 | Ros Quinlivan reviewed CYP2C8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RBCK1 | Ros Quinlivan reviewed RBCK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CAV3 | Ros Quinlivan reviewed CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYG1 | Ros Quinlivan reviewed GYG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Ros Quinlivan reviewed CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CACNA1S | Ros Quinlivan reviewed CACNA1S | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Sarah Leigh classified CPT2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CACNA1S | Sarah Leigh marked CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CACNA1S | Sarah Leigh commented on CACNA1S | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ISCU | Sarah Leigh classified ISCU as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TYMP | Sarah Leigh marked TYMP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Sarah Leigh marked CPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ISCU | Sarah Leigh marked ISCU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ISCU | Sarah Leigh commented on ISCU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TYMP | Sarah Leigh commented on TYMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TSEN54 | Sarah Leigh marked TSEN54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TK2 | Sarah Leigh marked TK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SUCLA2 | Sarah Leigh marked SUCLA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC22A5 | Sarah Leigh marked SLC22A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SLC22A5 | Sarah Leigh commented on SLC22A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SIL1 | Sarah Leigh marked SIL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RYR1 | Sarah Leigh marked RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RYR1 | Sarah Leigh commented on RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PYGM | Sarah Leigh marked PYGM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PYGM | Sarah Leigh commented on PYGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG2 | Sarah Leigh marked POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKB | Sarah Leigh marked PHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKA1 | Sarah Leigh marked PHKA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKA1 | Sarah Leigh commented on PHKA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGM1 | Sarah Leigh marked PGM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGM1 | Sarah Leigh commented on PGM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGK1 | Sarah Leigh marked PGK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGK1 | Sarah Leigh commented on PGK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGAM2 | Sarah Leigh marked PGAM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PGAM2 | Sarah Leigh commented on PGAM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PFKM | Sarah Leigh marked PFKM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PFKM | Sarah Leigh commented on PFKM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LPIN1 | Sarah Leigh marked LPIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LPIN1 | Sarah Leigh commented on LPIN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LDHA | Sarah Leigh marked LDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LDHA | Sarah Leigh commented on LDHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LAMP2 | Sarah Leigh marked LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | HADHB | Sarah Leigh marked HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | HADHB | Sarah Leigh commented on HADHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | HADHA | Sarah Leigh marked HADHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYS1 | Sarah Leigh marked GYS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GYS1 | Sarah Leigh commented on GYS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GBE1 | Sarah Leigh marked GBE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GBE1 | Sarah Leigh commented on GBE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GAA | Sarah Leigh marked GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | GAA | Sarah Leigh commented on GAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FKTN | Sarah Leigh marked FKTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FKRP | Sarah Leigh marked FKRP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ETFDH | Sarah Leigh marked ETFDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ETFDH | Sarah Leigh commented on ETFDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ETFB | Sarah Leigh marked ETFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ETFB | Sarah Leigh commented on ETFB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ETFA | Sarah Leigh marked ETFA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ETFA | Sarah Leigh commented on ETFA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ENO3 | Sarah Leigh marked ENO3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ENO3 | Sarah Leigh commented on ENO3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | DYSF | Sarah Leigh marked DYSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | DMD | Sarah Leigh marked DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Sarah Leigh edited their review of CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Sarah Leigh classified CPT2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Sarah Leigh classified CPT2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT2 | Sarah Leigh commented on CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ANO5 | Sarah Leigh marked ANO5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ANO5 | Sarah Leigh marked ANO5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AMPD1 | Sarah Leigh marked AMPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AMPD1 | Sarah Leigh commented on AMPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AMPD1 | Sarah Leigh classified AMPD1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AGL | Sarah Leigh marked AGL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ALDOA | Sarah Leigh marked ALDOA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ALDOA | Sarah Leigh commented on ALDOA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACADVL | Sarah Leigh marked ACADVL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | AGL | Sarah Leigh commented on AGL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACADVL | Sarah Leigh commented on ACADVL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACADM | Sarah Leigh marked ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACADM | Sarah Leigh commented on ACADM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACAD9 | Sarah Leigh marked ACAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TSEN54 | Sarah Leigh added TSEN54 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TSEN54 | Sarah Leigh reviewed TSEN54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SIL1 | Sarah Leigh added SIL1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SIL1 | Sarah Leigh reviewed SIL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FKTN | Sarah Leigh added FKTN to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FKTN | Sarah Leigh reviewed FKTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | DYSF | Sarah Leigh added DYSF to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | DYSF | Sarah Leigh reviewed DYSF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ANO5 | Sarah Leigh added ANO5 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ANO5 | Sarah Leigh reviewed ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FKRP | Sarah Leigh added FKRP to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | FKRP | Sarah Leigh reviewed FKRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | DMD | Sarah Leigh added DMD to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | DMD | Sarah Leigh reviewed DMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LAMP2 | Sarah Leigh added LAMP2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | LAMP2 | Sarah Leigh reviewed LAMP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TYMP | Sarah Leigh added TYMP to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TYMP | Sarah Leigh reviewed TYMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TK2 | Sarah Leigh added TK2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TK2 | Sarah Leigh reviewed TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SUCLA2 | Sarah Leigh added SUCLA2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | SUCLA2 | Sarah Leigh reviewed SUCLA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RRM2B | Sarah Leigh added RRM2B to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | RRM2B | Sarah Leigh reviewed RRM2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG2 | Sarah Leigh added POLG2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG2 | Sarah Leigh reviewed POLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG | Sarah Leigh added POLG to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | POLG | Sarah Leigh reviewed POLG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | HADHA | Sarah Leigh commented on HADHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACAD9 | Sarah Leigh added ACAD9 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | ACAD9 | Sarah Leigh reviewed ACAD9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PRKAG2 | Sarah Leigh added PRKAG2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PRKAG2 | Sarah Leigh reviewed PRKAG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKB | Sarah Leigh added PHKB to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKB | Sarah Leigh reviewed PHKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | CPT1B | Sarah Leigh commented on CPT1B |