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| 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 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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