| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Malignant Hyperthermia Susceptibility v1.8 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.7 |
Zornitza Stark HPO terms changed from to Malignant hyperthermia, HP:0002047; Rhabdomyolysis, HP:0003201 List of related panels changed from to Malignant hyperthermia; HP:0002047; Rhabdomyolysis; HP:0003201 |
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| Malignant Hyperthermia Susceptibility v1.6 | ASPH | Zornitza Stark Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility HP:0002047, ASPH-related to Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.5 | ASPH | Zornitza Stark Marked gene: ASPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.5 | ASPH | Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.5 | ASPH | Zornitza Stark Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility to Exertional heat illness; malignant hyperthermia susceptibility HP:0002047, ASPH-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.4 | ASPH | Zornitza Stark Classified gene: ASPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.4 | ASPH | Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ASPH |
Paul De Fazio gene: ASPH was added gene: ASPH was added to Malignant Hyperthermia Susceptibility. Sources: Literature Mode of inheritance for gene: ASPH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASPH were set to 35697689 Phenotypes for gene: ASPH were set to Exertional heat illness; malignant hyperthermia susceptibility Review for gene: ASPH was set to AMBER gene: ASPH was marked as current diagnostic Added comment: In a study of 103 individuals (63 affected from 34 families, plus 40 sporadic cases) who had either a sentinel event of EHI or MH, or else a positive CHCT and a first degree releative with EHI/MH, and where RYR1 and CACNA1S Sanger sequencing was negative, the following variants in ASPH were identified in unrelated individuals: - c.161T > C in 2 members of a family with myalgias exacerbated by heat/exercise. One had elevated CK. Both had positive CHCT. An unaffected sibling did not have the variant. 27 hets in gnomad v2 / 17 hets in gnomad v3. - c.445G>C in a patient with MH, myalgias and muscle cramps worsened by heat and exercise. 4 hets in gnomad v2 / 3 hets in gnomad v3. Non-coding in the MANE transcript. - c.263A > C in a patient with EHI, diagnosed as MHN by in vitro contracture test. Absent from gnomad but non-coding in the MANE transcript. - c.605A > G in a patient with EHI, diagnosed as MHN by in vitro contracture test. 223 hets in gnomad v2 / 120 hets in gnomad v3; no homs. Non-coding in the MANE transcript. A zebrafish model and cell line functional studies supported pathogenicity of the c.161T > C and c.263A > C variants. Sources: Literature |
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| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Marked gene: ATP2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Classified gene: ATP2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.3 | ATP2A1 | Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.2 | ATP2A1 |
Bryony Thompson gene: ATP2A1 was added gene: ATP2A1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP2A1 were set to 32040565 Phenotypes for gene: ATP2A1 were set to Brody myopathy MIM#601003 Review for gene: ATP2A1 was set to AMBER Added comment: In a study of 40 Brody disease cases, 3 unrelated cases with biallelic variants had positive in vitro contracture tests on muscle biopsy, and 2 of these cases had episode(s) of suspected MH following administration of general anaesthetics. An additional case experienced several episodes of unexplained hyperthermia, but had not undergone IVCT. 8 other cases reported in the cohort have undergone general anaesthesia without any adverse reactions. Sources: Literature |
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| Malignant Hyperthermia Susceptibility v1.1 | TRPV1 | Bryony Thompson Publications for gene: TRPV1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.12 | Bryony Thompson Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson changed review comment from: 3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stress episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling.; to: 3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stroke episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson edited their review of gene: TRPV1: Changed phenotypes: Malignant hyperthermia susceptibility, exertional heat stroke | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson Classified gene: TRPV1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.11 | TRPV1 | Bryony Thompson Gene: trpv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.10 | TRPV1 | Bryony Thompson reviewed gene: TRPV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29930394, 32471784; Phenotypes: Malignant hyperthermia susceptibility, exertional heat stress; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Marked gene: STAC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Classified gene: STAC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.8 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.7 | STAC3 |
Bryony Thompson gene: STAC3 was added gene: STAC3 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 30168660; 32898259 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch MIM#255995 Review for gene: STAC3 was set to GREEN Added comment: The rarest cause of malignant hyperthermia susceptibility. Currently, MHS has only been identified with the biallelic cases with myopathy. Pathogenic variants impair skeletal muscle excitation–contraction coupling. Sources: Expert list |
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| Malignant Hyperthermia Susceptibility v0.6 | TRPV1 |
Bryony Thompson gene: TRPV1 was added gene: TRPV1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPV1 were set to Malignant hyperthermia susceptibility |
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| Malignant Hyperthermia Susceptibility v0.5 | CACNB1 |
Bryony Thompson gene: CACNB1 was added gene: CACNB1 was added to Malignant Hyperthermia Susceptibility. Sources: Other Mode of inheritance for gene: CACNB1 was set to Unknown Phenotypes for gene: CACNB1 were set to Malignant hyperthermia susceptibility |
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| Malignant Hyperthermia Susceptibility v0.4 | RYR1 | Bryony Thompson edited their review of gene: RYR1: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.4 | CACNA1S | Bryony Thompson edited their review of gene: CACNA1S: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.4 | CACNA1S | Bryony Thompson Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.4 | CACNA1S | Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.4 | CACNA1S | Bryony Thompson Classified gene: CACNA1S as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.4 | CACNA1S | Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.3 | CACNA1S |
Bryony Thompson gene: CACNA1S was added gene: CACNA1S was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1S were set to 20301325 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5} MIM#601887 Mode of pathogenicity for gene: CACNA1S was set to Other Review for gene: CACNA1S was set to GREEN Added comment: Gain of function variants are the second most common cause of malignant hyperthermia susceptibility. Sources: Expert list |
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| Malignant Hyperthermia Susceptibility v0.2 | RYR1 | Bryony Thompson Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.2 | RYR1 | Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.2 | RYR1 | Bryony Thompson Classified gene: RYR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.2 | RYR1 | Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant Hyperthermia Susceptibility v0.1 | RYR1 |
Bryony Thompson gene: RYR1 was added gene: RYR1 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR1 were set to 20301325 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} MIM#145600 Mode of pathogenicity for gene: RYR1 was set to Other Review for gene: RYR1 was set to GREEN Added comment: Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia Sources: Expert list |
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| Malignant Hyperthermia Susceptibility v0.0 |
Bryony Thompson Added Panel Malignant Hyperthermia Susceptibility Set panel types to: Royal Melbourne Hospital; Rare Disease |
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