This Panel is marked as Internal
Lactic acidosis
Gene: ISCU
ISCU (iron-sulfur cluster assembly enzyme)
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review recommended that the mitochondrial panel be applied.Created: 8 Feb 2016, 9:40 a.m.
Details
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy with lactic acidosis, hereditary, 255125
- OMIM
- 611911
- Clinvar variants
- Variants in ISCU
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital myopathy
- Mitochondrial disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
History Filter Activity
8 Feb 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ISCU was added to Lactic acidosispanel. Sources: Radboud University Medical Center, Nijmegen