ISCU

iron-sulfur cluster assembly enzyme
OMIM: 611911
PanelMode of inheritanceDetails
5 panels
R-numbers: R419
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, OMIM:255125
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Disorders of iron homeostasis, Myopathy with lactic acidosis, hereditary, 255125
R-numbers: R63
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, 255125
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary 255125