Possible mitochondrial disorder - nuclear genes
Gene: ISCUComment 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
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
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
Gene: iscu has been classified as Green List (High Evidence).
Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689
Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Publications for gene: ISCU were set to
Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag founder-effect tag was added to gene: ISCU.
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