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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
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
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
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
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).
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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.
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
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.
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
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.
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
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.
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
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.
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.
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
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.
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
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.
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
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.
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.
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.
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)
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)
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)
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)
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)
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)
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)
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
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
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
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.
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)
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.
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
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
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
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
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
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
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
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
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
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