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Possible mitochondrial disorder - nuclear genes

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing.
Created: 16 Sep 2019, 2:52 p.m. | Last Modified: 16 Sep 2019, 2:52 p.m.
Panel Version: 1.9
Comment on mode of inheritance: A recently reported de novo dominant variant in ISCU associated with mitochondrial myopathy (PMID 29079705), justifies the mode of inheritance listed here (in consultation with the GMS Mitochondrial specialist test group).
Created: 16 Sep 2019, 2:47 p.m. | Last Modified: 16 Sep 2019, 2:47 p.m.
Panel Version: 1.5

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with lactic acidosis, hereditary, 255125

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals mostly from Swedish ancestry reported in the literature; there is a common founder variant, which has been observed in combination with a number of other variants. Please also note report of a patient with a de novo single variant in this gene, and disease, backed up with functional data.
Created: 30 Aug 2018, 5:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy with lactic acidosis, hereditary, MIM#255125

Publications

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
non-coding-known-pathogenic founder-effect
OMIM
611911
Clinvar variants
Variants in ISCU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689

16 Sep 2019, 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

16 Sep 2019, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag non-coding-known-pathogenic tag was added to gene: ISCU.

16 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ISCU were set to

16 Sep 2019, 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

29 Mar 2019, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag founder-effect tag was added to gene: ISCU.

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ISCU was added gene: ISCU was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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