Mitochondrial disorders
Gene: ISCUComment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant in ISCU associated with mitochondrial myopathy, which justifies the mode of inheritance recorded here.Created: 12 Aug 2019, 11:15 a.m. | Last Modified: 12 Aug 2019, 11:15 a.m.
Panel Version: 1.477
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 Apr 2019, 2:32 p.m. | Last Modified: 6 Aug 2019, 10:57 a.m.
Panel Version: 1.469
Publications
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
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 18296749; 29079705; 19567699; 20206689
Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Gene: iscu has been classified as Green List (High Evidence).
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 founder-effect tag was added to gene: ISCU.
Publications for gene: ISCU were set to
Mode of inheritance for gene: ISCU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to ISCU. Panel: Mitochondrial disorders
ISCU was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ISCU was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ISCU was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen