Rhabdomyolysis and metabolic muscle disorders
Gene: ISCUEnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 11:15 a.m. | Last Modified: 2 May 2024, 11:15 a.m.
Panel Version: 4.3
Added 'for-review' tag as the MOI has changed since previous sign-off of this panel (version 1.34) and requires review by the Specialist Test Group.Created: 21 Oct 2020, 4:27 p.m. | Last Modified: 21 Oct 2020, 4:50 p.m.
Panel Version: 1.43
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 3:36 p.m. | Last Modified: 15 Mar 2022, 3:36 p.m.
Panel Version: 1.78
Comment on mode of inheritance: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant missense p.G97V variant has been reported and therefore this may represent a specific mechanism of action. Further evidence is needed to determine which (if any) other monoallelic variants will cause disease beyond mitochondrial myopathy, which justifies the mode of inheritance recorded.Created: 23 Jun 2020, 2:10 p.m. | Last Modified: 23 Jun 2020, 2:10 p.m.
Panel Version: 1.42
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least two variants reported, numerous reports of IVS5, +382G>C (g.7044G>C), with evidence provided that this variant results in abnormal splicing, a frameshift and termination. In vitro evidence for reduced active gene productCreated: 5 Dec 2016, 3:26 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Myopathy with lactic acidosis, hereditary, OMIM:255125
- Tags
- OMIM
- 611911
- Clinvar variants
- Variants in ISCU
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Arthrogryposis
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary 255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: ISCU. Tag to_be_confirmed_NHSE was removed from gene: ISCU.
Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to ISCU. Mode of inheritance for gene ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: ISCU.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: ISCU.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ISCU were set to 21165651; 22125086
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ISCU were set to 21165651; 22125086
Upload gene information
Sarah Leigh (Genomics England Curator)ISCU was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ISCU were set to Myopathy with lactic acidosis, hereditary 255125
Added New Source
Sarah Leigh (Genomics England Curator)ISCU was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)ISCU was created by sleigh