Rhabdomyolysis and metabolic muscle disorders

Gene: ISCU

Green List (high evidence)

ISCU (iron-sulfur cluster assembly enzyme)
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Sarah Leigh (Genomics England Curator)

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 product
Created: 5 Dec 2016, 3:26 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy with lactic acidosis, hereditary 255125
Tags
non-coding-known-pathogenic for-review
OMIM
611911
Clinvar variants
Variants in ISCU
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ISCU.

23 Jun 2020, Gel status: 3

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

23 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ISCU were set to 21165651; 22125086

23 Jun 2020, Gel status: 3

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

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Dec 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ISCU were set to 21165651; 22125086

1 Dec 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

ISCU was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ISCU was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ISCU were set to Myopathy with lactic acidosis, hereditary 255125

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ISCU was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ISCU was created by sleigh