Rhabdomyolysis and Metabolic Myopathy
Gene: ISCU
Multiple affected families reported from Northern Sweden, note common founder variant, intronic 7044G-C, or IVS5+382G-C. Most affected individuals are homozygous for the founder variant. One missense variant reported in compound het state with founder variant. Recent report of mono-allelic muscle disorder in a single individual. Red/Amber for mono-allelic disease.Created: 16 Mar 2022, 9:34 a.m. | Last Modified: 16 Mar 2022, 9:34 a.m.
Panel Version: 0.11468
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, MIM# 255125
Publications
Gene: iscu has been classified as Green List (High Evidence).
Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary 255125 to Myopathy with lactic acidosis, hereditary, MIM# 255125
Publications for gene: ISCU were set to
gene: ISCU was added gene: ISCU was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary 255125