Genomics England
GMS Panels
Panels
Genes and Entities

ISCU

iron-sulfur cluster assembly enzyme
OMIM: 611911
PanelMode of inheritanceDetails
5 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, OMIM:255125
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, 255125, Disorders of iron homeostasis, Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Rhabdomyolysis and metabolic muscle disorders
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Disorders of iron homeostasis, Myopathy with lactic acidosis, hereditary, 255125
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, 255125
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, OMIM:255125