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  3. ISCU
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Rhabdomyolysis and Metabolic Myopathy

Gene: ISCU

Green List (high evidence)
ISCU (iron-sulfur cluster assembly enzyme)
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 16 Mar 2022, 9:34 a.m.
Last Modified: 16 Mar 2022, 9:34 a.m.
Panel version: Imported from Mendeliome panel version 0.11468

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with lactic acidosis, hereditary, MIM# 255125
OMIM
611911
Clinvar variants
Variants in ISCU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: iscu has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary 255125 to Myopathy with lactic acidosis, hereditary, MIM# 255125

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ISCU were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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