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Acute rhabdomyolysis v1.18 | ACAD9 | Anderson Steven Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.18 | ACAD9 | Anderson Steven commented on gene: ACAD9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.16 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.16 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.16 | MT-CO1 | Eleanor Williams commented on gene: MT-CO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.16 | OBSCN | Arina Puzriakova Phenotypes for gene: OBSCN were changed from Rhabdomyolysis, myopathy to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.15 | OBSCN | Arina Puzriakova Tag gene-checked was removed from gene: OBSCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.15 | MT-CO2 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.15 | MT-CO1 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.15 | MYH1 | Achchuthan Shanmugasundram Classified gene: MYH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.15 | MYH1 | Achchuthan Shanmugasundram Gene: myh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.14 | MYH1 |
Achchuthan Shanmugasundram gene: MYH1 was added gene: MYH1 was added to Acute rhabdomyolysis. Sources: Literature Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH1 were set to 33755318 Phenotypes for gene: MYH1 were set to rhabdomyolysis, MONDO:0005290 Review for gene: MYH1 was set to AMBER Added comment: 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. Sources: Literature |
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Acute rhabdomyolysis v1.13 | PHKB | Achchuthan Shanmugasundram Classified gene: PHKB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.13 | PHKB | Achchuthan Shanmugasundram Added comment: Comment on list classification: PHKB gene was demoted to Red in 'Rhabdomyolysis and metabolic muscle disorders' panel (https://panelapp.genomicsengland.co.uk/panels/66/gene/PHKB/) in agreement with the NHS Genomic Medicine Service. Hence, we propose that this gene should be reviewed for demotion to red in this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.13 | PHKB | Achchuthan Shanmugasundram Gene: phkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.12 | PHKB |
Achchuthan Shanmugasundram Tag Q3_23_expert_review tag was added to gene: PHKB. Tag Q3_23_demote_red tag was added to gene: PHKB. |
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Acute rhabdomyolysis v1.12 | PHKB | Achchuthan Shanmugasundram reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.12 | SLC22A5 | Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.12 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.12 | 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.12 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 29895548 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.11 | SLC22A5 | Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.11 | SLC22A5 | Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.11 | SLC22A5 | Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, OMIM:212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.8 |
Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off Panel version 1.7 has been signed off on 2023-05-31 |
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Acute rhabdomyolysis v1.7 | ETFB | Sarah Leigh Publications for gene: ETFB were set to 25929793; 32550677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.6 | ETFB | Sarah Leigh Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, OMIM:231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.5 | ETFA | Sarah Leigh Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA, OMIM:231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.4 | MLIP | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: MLIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.4 | MLIP | Achchuthan Shanmugasundram Phenotypes for gene: MLIP were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis; MIM# 620138 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.3 | MLIP | Achchuthan Shanmugasundram Classified gene: MLIP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.3 | MLIP | Achchuthan Shanmugasundram Gene: mlip has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.2 | MLIP | Achchuthan Shanmugasundram edited their review of gene: MLIP: Changed phenotypes to: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v1.2 | MLIP |
Achchuthan Shanmugasundram gene: MLIP was added gene: MLIP was added to Acute rhabdomyolysis. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 34581780; 34935254; 35672413; 35915960; 35942668 Phenotypes for gene: MLIP were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis; MIM# 620138 Review for gene: MLIP was set to GREEN Added comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in rhabdomyolysis, as identified from biallelic variants from four unrelated cases from multiple ethnicities. Seven patients from six families carrying six different biallelic (either homozygous or compound heterozygous) variants in MLIP gene were presented with a consistent phenotype including mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis (reported in five individuals from four families), and persistent basal elevated serum creatine kinase (CK) levels. The age of onset of symptoms ranged from 8 months to 7 years (PMID:34581780). However, patients carrying biallelic variants in MLIP gene were not reported with rhabdomyolysis in other studies (PMID:34935254; PMID:35672413; PMID:35915960). The association of MLIP to rhabdomyolysis has now been documented in OMIM (#620138). Sources: Literature |
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Acute rhabdomyolysis v1.1 |
Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off Panel version 1.0 has been signed off on 2022-11-30 |
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Acute rhabdomyolysis v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.10 | OBSCN | Arina Puzriakova Tag gene-checked tag was added to gene: OBSCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.10 | MT-CO2 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.10 | MT-CO1 | Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.10 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.8 | COQ8A | Arina Puzriakova Classified gene: COQ8A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.8 | COQ8A | Arina Puzriakova Gene: coq8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.7 | COQ4 | Arina Puzriakova Classified gene: COQ4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.7 | COQ4 | Arina Puzriakova Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | TYMP | Arina Puzriakova commented on gene: TYMP: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | TSFM | Arina Puzriakova commented on gene: TSFM: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | TSEN54 | Arina Puzriakova commented on gene: TSEN54: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | TK2 | Arina Puzriakova reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | TANGO2 | Arina Puzriakova reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SUCLA2 | Arina Puzriakova commented on gene: SUCLA2: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SLC2A9 | Arina Puzriakova commented on gene: SLC2A9: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SLC22A5 | Arina Puzriakova reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SLC22A12 | Arina Puzriakova commented on gene: SLC22A12: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SIL1 | Arina Puzriakova reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SGCA | Arina Puzriakova reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | SCN4A | Arina Puzriakova reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | RYR1 | Arina Puzriakova reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | RRM2B | Arina Puzriakova commented on gene: RRM2B: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | RBCK1 | Arina Puzriakova commented on gene: RBCK1: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PYGM | Arina Puzriakova reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PRKAG2 | Arina Puzriakova commented on gene: PRKAG2: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Amber but may be subject to review in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | POLG2 | Arina Puzriakova reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | POLG | Arina Puzriakova reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PHKG1 | Arina Puzriakova commented on gene: PHKG1: After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PHKB | Arina Puzriakova reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PHKA1 | Arina Puzriakova reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PGM1 | Arina Puzriakova reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PGK1 | Arina Puzriakova reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PGAM2 | Arina Puzriakova reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | PFKM | Arina Puzriakova reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | OBSCN | Arina Puzriakova reviewed gene: OBSCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | MT-CO2 | Arina Puzriakova reviewed gene: MT-CO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | MT-CO1 | Arina Puzriakova reviewed gene: MT-CO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | LPIN1 | Arina Puzriakova reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | LDHA | Arina Puzriakova reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | LAMP2 | Arina Puzriakova reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ISCU | Arina Puzriakova reviewed gene: ISCU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | HADHB | Arina Puzriakova reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | HADHA | Arina Puzriakova reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | GYS1 | Arina Puzriakova reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | GYG1 | Arina Puzriakova reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | GMPPB | Arina Puzriakova reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | GBE1 | Arina Puzriakova reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | GAA | Arina Puzriakova reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | FLAD1 | Arina Puzriakova reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | FKRP | Arina Puzriakova reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | FDX2 | Arina Puzriakova reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ETFDH | Arina Puzriakova reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ETFB | Arina Puzriakova reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ETFA | Arina Puzriakova reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ENO3 | Arina Puzriakova reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | DYSF | Arina Puzriakova reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | DMD | Arina Puzriakova reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | DGUOK | Arina Puzriakova reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | CPT2 | Arina Puzriakova reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | COQ8A | Arina Puzriakova edited their review of gene: COQ8A: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | COQ4 | Arina Puzriakova edited their review of gene: COQ4: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | CHKB | Arina Puzriakova reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | CAV3 | Arina Puzriakova edited their review of gene: CAV3: Added comment: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | CACNA1S | Arina Puzriakova reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ANO5 | Arina Puzriakova reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | AMPD1 | Arina Puzriakova reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ALDOA | Arina Puzriakova reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | AGL | Arina Puzriakova reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ACADVL | Arina Puzriakova reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ACADM | Arina Puzriakova reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.6 | ACAD9 | Arina Puzriakova reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.5 | CYP2C8 | Arina Puzriakova commented on gene: CYP2C8: Added 'to_be_confirmed_NHSE' tag - testing criteria to be discussed as CYP2C8-related rhabdomyolysis is drug-induced | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.5 | CYP2C8 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: CYP2C8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.5 | CAV3 | Arina Puzriakova Added comment: Comment on mode of inheritance: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has been set to 'both mono and biallelic'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.5 | CAV3 | Arina Puzriakova Mode of inheritance for gene: CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.4 | Arina Puzriakova List of related panels changed from to R419 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | PRKAG2 | Arina Puzriakova changed review comment from: RBCK1 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis.; to: PRKAG2 is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | SLC2A9 | Arina Puzriakova reviewed gene: SLC2A9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypouricemia, renal, 2, OMIM:612076; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | SLC22A12 | Arina Puzriakova reviewed gene: SLC22A12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypouricemia, renal, OMIM:220150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | PRKAG2 | Arina Puzriakova reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 3385534, 16487706; Phenotypes: Glycogen storage disease of heart, lethal congenital, OMIM:261740, Cardiomyopathy, hypertrophic 6, OMIM:600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | PHKG1 | Arina Puzriakova reviewed gene: PHKG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | CYP2C8 | Arina Puzriakova reviewed gene: CYP2C8: Rating: RED; Mode of pathogenicity: ; Publications: 15365880, 20739906; Phenotypes: {Drug metabolism, altered, CYP2C8-related}, OMIM:618018, Rhabdomyolysis, cerivastatin-induced; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | COQ8A | Arina Puzriakova reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26818466, 22036850, 18319074, 18319072; Phenotypes: Coenzyme Q10 deficiency, primary, 4, OMIM:612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | COQ4 | Arina Puzriakova reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28472853, 26185144, 25658047; Phenotypes: Coenzyme Q10 deficiency, primary, 7, OMIM:616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | TYMP | Arina Puzriakova reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: ; Publications: 24199812; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | TSFM | Arina Puzriakova reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: 17033963; Phenotypes: Combined oxidative phosphorylation deficiency 3, OMIM:610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | TSEN54 | Arina Puzriakova reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: 23177318, 25929793; Phenotypes: Pontocerebellar hypoplasia type 2A, OMIM:277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | SUCLA2 | Arina Puzriakova reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33231368, 23010432, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | RRM2B | Arina Puzriakova reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 19138848, 21646632, 19664747; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077, Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.3 | RBCK1 | Arina Puzriakova reviewed gene: RBCK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35017290, 23889995, 23798481, 23104095, 25041762; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.2 | TYMP |
Arina Puzriakova gene: TYMP was added gene: TYMP was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 24199812 Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 |
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Acute rhabdomyolysis v0.2 | TSFM |
Arina Puzriakova gene: TSFM was added gene: TSFM was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, OMIM:610505 |
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Acute rhabdomyolysis v0.2 | TSEN54 |
Arina Puzriakova gene: TSEN54 was added gene: TSEN54 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to 25929793; 23177318 Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, OMIM:277470 |
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Acute rhabdomyolysis v0.2 | TK2 |
Arina Puzriakova gene: TK2 was added gene: TK2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 29602790; 33457207 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 |
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Acute rhabdomyolysis v0.2 | TANGO2 |
Arina Puzriakova gene: TANGO2 was added gene: TANGO2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 30245509; 26805781 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 |
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Acute rhabdomyolysis v0.2 | SUCLA2 |
Arina Puzriakova gene: SUCLA2 was added gene: SUCLA2 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 17301081; 23010432; 33231368 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 |
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Acute rhabdomyolysis v0.2 | SLC2A9 |
Arina Puzriakova gene: SLC2A9 was added gene: SLC2A9 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC2A9 were set to Hypouricemia, renal, 2, OMIM:612076; Exercise induced kidney injury |
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Acute rhabdomyolysis v0.2 | SLC22A5 |
Arina Puzriakova gene: SLC22A5 was added gene: SLC22A5 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 29895548 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, OMIM:212140 |
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Acute rhabdomyolysis v0.2 | SLC22A12 |
Arina Puzriakova gene: SLC22A12 was added gene: SLC22A12 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A12 were set to Exercise induced acute kidney failure; Hypouricemia, renal, OMIM:220150 |
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Acute rhabdomyolysis v0.2 | SIL1 |
Arina Puzriakova gene: SIL1 was added gene: SIL1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 25929793; 9638664; 11805249 Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, OMIM:248800 |
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Acute rhabdomyolysis v0.2 | SGCA |
Arina Puzriakova gene: SGCA was added gene: SGCA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 26453141; 23989969; 27297959 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 |
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Acute rhabdomyolysis v0.2 | SCN4A |
Arina Puzriakova gene: SCN4A was added gene: SCN4A was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS 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; 17998485; 32978841 Phenotypes for gene: SCN4A were set to Exercise induced cramps, muscle fatigue, myopathy; Hyperkalemic periodic paralysis, type 2, OMIM:170500; Hypokalemic periodic paralysis, type 2, OMIM:613345; Paramyotonia congenita, OMIM:168300; Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390; Myasthenic syndrome, congenital, 16, OMIM:614198 |
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Acute rhabdomyolysis v0.2 | RYR1 |
Arina Puzriakova gene: RYR1 was added gene: RYR1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 34348614; 21514828; 29298851; 33250373; 34414986 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, OMIM:117000 |
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Acute rhabdomyolysis v0.2 | RRM2B |
Arina Puzriakova gene: RRM2B was added gene: RRM2B was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 19138848; 21646632; 19664747 Phenotypes for gene: RRM2B were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, OMIM:613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075 |
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Acute rhabdomyolysis v0.2 | RBCK1 |
Arina Puzriakova gene: RBCK1 was added gene: RBCK1 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 23889995; 23104095; 25041762; 35017290 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 |
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Acute rhabdomyolysis v0.2 | PYGM |
Arina Puzriakova gene: PYGM was added gene: PYGM was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 19433441; 25929793; 21880526 Phenotypes for gene: PYGM were set to McArdle disease, OMIM:232600 |
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Acute rhabdomyolysis v0.2 | PRKAG2 |
Arina Puzriakova gene: PRKAG2 was added gene: PRKAG2 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 3385534; 16487706 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6, OMIM:600858; Glycogen storage disease of heart, lethal congenital, OMIM:261740 |
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Acute rhabdomyolysis v0.2 | POLG2 |
Arina Puzriakova gene: POLG2 was added gene: POLG2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG2 were set to 21555342; 16685652 Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
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Acute rhabdomyolysis v0.2 | POLG |
Arina Puzriakova gene: POLG was added gene: POLG was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG were set to 25929793; 23873972; 9443501 Phenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450; Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 |
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Acute rhabdomyolysis v0.2 | PHKG1 |
Arina Puzriakova gene: PHKG1 was added gene: PHKG1 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PHKG1 was set to Unknown |
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Acute rhabdomyolysis v0.2 | PHKB |
Arina Puzriakova gene: PHKB was added gene: PHKB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750 |
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Acute rhabdomyolysis v0.2 | PHKA1 |
Arina Puzriakova gene: PHKA1 was added gene: PHKA1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 25929793 Phenotypes for gene: PHKA1 were set to Muscle glycogenosis, OMIM:300559 |
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Acute rhabdomyolysis v0.2 | PGM1 |
Arina Puzriakova gene: PGM1 was added gene: PGM1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 25929793; 19625727; 22492991 Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM:614921 |
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Acute rhabdomyolysis v0.2 | PGK1 |
Arina Puzriakova gene: PGK1 was added gene: PGK1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 19157875; 16567715; 1547346; 22348148 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, OMIM:300653 |
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Acute rhabdomyolysis v0.2 | PGAM2 |
Arina Puzriakova gene: PGAM2 was added gene: PGAM2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAM2 were set to 25929793; 8447317; 19273759 Phenotypes for gene: PGAM2 were set to Glycogen storage disease X, OMIM:261670 |
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Acute rhabdomyolysis v0.2 | PFKM |
Arina Puzriakova gene: PFKM was added gene: PFKM was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 25929793; 11949936; 8037209 Phenotypes for gene: PFKM were set to Glycogen storage disease VII, OMIM:232800 |
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Acute rhabdomyolysis v0.2 | OBSCN |
Arina Puzriakova gene: OBSCN was added gene: OBSCN was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OBSCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSCN were set to 34957489 Phenotypes for gene: OBSCN were set to Rhabdomyolysis, myopathy |
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Acute rhabdomyolysis v0.2 | MT-CO2 |
Arina Puzriakova gene: MT-CO2 was added gene: MT-CO2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Publications for gene: MT-CO2 were set to 25929793; 28521807; 14733964; 23616164 Phenotypes for gene: MT-CO2 were set to Cytochrome oxidase deficiency, rhabdomyolysis |
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Acute rhabdomyolysis v0.2 | MT-CO1 |
Arina Puzriakova gene: MT-CO1 was added gene: MT-CO1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Publications for gene: MT-CO1 were set to 25929793; 10980727 Phenotypes for gene: MT-CO1 were set to Leber hereditary optic neuropathy; Myoglobinuria |
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Acute rhabdomyolysis v0.2 | LPIN1 |
Arina Puzriakova gene: LPIN1 was added gene: LPIN1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 25929793; 18817903; 33514355 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200 |
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Acute rhabdomyolysis v0.2 | LDHA |
Arina Puzriakova gene: LDHA was added gene: LDHA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHA were set to 1959923; 7449146; 3383424 Phenotypes for gene: LDHA were set to Glycogen storage disease XI, OMIM:612933 |
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Acute rhabdomyolysis v0.2 | LAMP2 |
Arina Puzriakova gene: LAMP2 was added gene: LAMP2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 24222494; 30527948; 27442649 Phenotypes for gene: LAMP2 were set to Danon disease, OMIM:300257 |
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Acute rhabdomyolysis v0.2 | ISCU |
Arina Puzriakova gene: ISCU was added gene: ISCU was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ISCU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ISCU were set to 21165651; 29079705; 22125086 Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary, OMIM:255125 |
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Acute rhabdomyolysis v0.2 | HADHB |
Arina Puzriakova gene: HADHB was added gene: HADHB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 25929793; 23868323 Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, OMIM:609015 |
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Acute rhabdomyolysis v0.2 | HADHA |
Arina Puzriakova gene: HADHA was added gene: HADHA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 25929793; 24664533 Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, OMIM:609015 |
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Acute rhabdomyolysis v0.2 | GYS1 |
Arina Puzriakova gene: GYS1 was added gene: GYS1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS1 were set to 17928598; 19699667; 27604308; 30397902; 21958591; 24579562 Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle, OMIM:611556 |
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Acute rhabdomyolysis v0.2 | GYG1 |
Arina Puzriakova gene: GYG1 was added gene: GYG1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYG1 were set to 27544502; 25272951; 20357282; 26255073; 26652229 Phenotypes for gene: GYG1 were set to Glycogen storage disease XV, OMIM:613507 |
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Acute rhabdomyolysis v0.2 | GMPPB |
Arina Puzriakova gene: GMPPB was added gene: GMPPB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 25681410; 23768512; 27874200; 28456886; 26133662 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; Exercise intolerance, myalgia |
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Acute rhabdomyolysis v0.2 | GBE1 |
Arina Puzriakova gene: GBE1 was added gene: GBE1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 20058079; 30397902; 15452297 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, OMIM:232500 |
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Acute rhabdomyolysis v0.2 | GAA |
Arina Puzriakova gene: GAA was added gene: GAA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 25929793; 18425781; 14695532 Phenotypes for gene: GAA were set to Glycogen storage disease II, OMIM:232300 |
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Acute rhabdomyolysis v0.2 | FLAD1 |
Arina Puzriakova gene: FLAD1 was added gene: FLAD1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 27259049; 30311138; 28433476 Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 |
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Acute rhabdomyolysis v0.2 | FKRP |
Arina Puzriakova gene: FKRP was added gene: FKRP was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 26810512; 21220724; 25929793; 22029705; 32978841 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155 |
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Acute rhabdomyolysis v0.2 | FDX2 |
Arina Puzriakova gene: FDX2 was added gene: FDX2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 28803783; 34905296; 30010796; 24281368 Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900 |
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Acute rhabdomyolysis v0.2 | ETFDH |
Arina Puzriakova gene: ETFDH was added gene: ETFDH was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 25929793 Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, OMIM:231680 |
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Acute rhabdomyolysis v0.2 | ETFB |
Arina Puzriakova gene: ETFB was added gene: ETFB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 25929793; 32550677 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, OMIM:231680 |
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Acute rhabdomyolysis v0.2 | ETFA |
Arina Puzriakova gene: ETFA was added gene: ETFA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 25929793 Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, OMIM:231680 |
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Acute rhabdomyolysis v0.2 | ENO3 |
Arina Puzriakova gene: ENO3 was added gene: ENO3 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENO3 were set to 25267339; 11506403; 25929793; 31741825 Phenotypes for gene: ENO3 were set to Exercise induced rhabdomyolysis; Glycogen storage disease XIII, OMIM:612932 |
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Acute rhabdomyolysis v0.2 | DYSF |
Arina Puzriakova gene: DYSF was added gene: DYSF was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYSF were set to 17287450; 18306167; 15477515 Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1, OMIM:254130; Myopathy, distal, with anterior tibial onset, OMIM:606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 |
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Acute rhabdomyolysis v0.2 | DMD |
Arina Puzriakova gene: DMD was added gene: DMD was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DMD were set to 1822795; 19396825 Phenotypes for gene: DMD were set to Becker muscular dystrophy, OMIM:300376; Exercise induced crams and myoglobinuria |
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Acute rhabdomyolysis v0.2 | DGUOK |
Arina Puzriakova gene: DGUOK was added gene: DGUOK was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 23043144 Phenotypes for gene: DGUOK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 |
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Acute rhabdomyolysis v0.2 | CYP2C8 |
Arina Puzriakova gene: CYP2C8 was added gene: CYP2C8 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: CYP2C8 was set to Unknown Publications for gene: CYP2C8 were set to 20739906; 15365880 Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced; {Drug metabolism, altered, CYP2C8-related}, OMIM:618018 |
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Acute rhabdomyolysis v0.2 | CPT2 |
Arina Puzriakova gene: CPT2 was added gene: CPT2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 11994355; 23911907; 10873395; 15622536; 21913903; 24843804; 23184072 Phenotypes for gene: CPT2 were set to Exercise intolerance and rhabdomyolysis, late onset; CPT II deficiency, myopathic, stress-induced, OMIM:255110 |
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Acute rhabdomyolysis v0.2 | COQ8A |
Arina Puzriakova gene: COQ8A was added gene: COQ8A was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 18319072; 22036850; 26818466; 18319074 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, OMIM:612016 |
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Acute rhabdomyolysis v0.2 | COQ4 |
Arina Puzriakova gene: COQ4 was added gene: COQ4 was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 26185144; 25658047; 28472853 Phenotypes for gene: COQ4 were set to Rhabdomyolysis; Coenzyme Q10 deficiency, primary, 7, OMIM:616276 |
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Acute rhabdomyolysis v0.2 | CHKB |
Arina Puzriakova gene: CHKB was added gene: CHKB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 25187204; 23692895; 21665002; 26782016 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, OMIM:602541 |
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Acute rhabdomyolysis v0.2 | CAV3 |
Arina Puzriakova gene: CAV3 was added gene: CAV3 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to 12666119; 15668980; 11251997; 27312022; 16730439; 9536092 Phenotypes for gene: CAV3 were set to Rippling muscle disease, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321 |
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Acute rhabdomyolysis v0.2 | CACNA1S |
Arina Puzriakova gene: CACNA1S was added gene: CACNA1S was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1S were set to 28011884; 19825159; 29193480; 25735680 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, OMIM:601887 |
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Acute rhabdomyolysis v0.2 | ANO5 |
Arina Puzriakova gene: ANO5 was added gene: ANO5 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO5 were set to 25929793 Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307; Miyoshi muscular dystrophy 3, OMIM:613319 |
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Acute rhabdomyolysis v0.2 | AMPD1 |
Arina Puzriakova gene: AMPD1 was added gene: AMPD1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 19258857; 15803807; 25929793; 11331279; 23543093 Phenotypes for gene: AMPD1 were set to Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 |
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Acute rhabdomyolysis v0.2 | ALDOA |
Arina Puzriakova gene: ALDOA was added gene: ALDOA was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 2825199; 25929793; 14615364; 8598869; 25392908 Phenotypes for gene: ALDOA were set to Glycogen storage disease XII, OMIM:611881 |
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Acute rhabdomyolysis v0.2 | AGL |
Arina Puzriakova gene: AGL was added gene: AGL was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 25929793; 20648714 Phenotypes for gene: AGL were set to Glycogen storage disease IIIb, OMIM:232400; Glycogen storage disease IIIa, OMIM:232400 |
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Acute rhabdomyolysis v0.2 | ACADVL |
Arina Puzriakova gene: ACADVL was added gene: ACADVL was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 25929793; 9973285; 8739957 Phenotypes for gene: ACADVL were set to VLCAD deficiency, OMIM:201475 |
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Acute rhabdomyolysis v0.2 | ACADM |
Arina Puzriakova gene: ACADM was added gene: ACADM was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27856190; 11409868 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 |
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Acute rhabdomyolysis v0.2 | ACAD9 |
Arina Puzriakova gene: ACAD9 was added gene: ACAD9 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to 17564966; 23836383 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, OMIM:611126 |
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Acute rhabdomyolysis v0.0 |
Arina Puzriakova Added Panel Acute rhabdomyolysis Set panel types to: GMS Rare Disease |