Rhabdomyolysis and metabolic muscle disorders
Gene: ISCUAdded '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
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.
Tag to_be_confirmed_NHSE tag was added to gene: ISCU.
Tag for-review tag was added to gene: ISCU.
Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ISCU were set to 21165651; 22125086
Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ISCU were set to 21165651; 22125086
ISCU was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Model 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
ISCU was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
ISCU was created by sleigh