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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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Acute rhabdomyolysis v0.0 Arina Puzriakova Added Panel Acute rhabdomyolysis
Set panel types to: GMS Rare Disease