Inherited white matter disorders
Gene: ISCA2Comment on list classification: Promoted from red to green, based on evidence provided by expert reviewer and also advice from the Genomics England Clinical team.Created: 1 Jul 2019, 12:19 p.m. | Last Modified: 1 Jul 2019, 12:19 p.m.
Panel Version: 1.69
Please note this recent report of an unrelated patient with compound heterozygous variants in this gene, in addition to the multiple patients reported with homozygous founder mutation, further strengthening the evidence for a disease association.Created: 24 Jul 2018, 2:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 4, MIM#616370
Publications
Variants in this GENE are reported as part of current diagnostic practice
There are 6 cases, however they were all reported to have the same one variant, and all patients are of Arabic decent, and so it may be a founder effect (PMID: 25539947), with the same variant reported in PMID: 25558065. PMID: 22323289 functional study "Taken together, our data suggest that ISCA1, ISCA2, and IBA57 are specifically involved in the maturation of mitochondrial [4Fe-4S] proteins functioning late in the iron-sulfur cluster (ISC) assembly pathway."Created: 6 Oct 2016, 12:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: isca2 has been classified as Green List (High Evidence).
Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, 616370
Publications for gene: ISCA2 were set to 27564080; 25558065; 25539947; 22323289
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
ISCA2 was added to Inherited white matter disorderspanel. Sources: Literature
ISCA2 was created by ellenmcdonagh