Inherited white matter disorders

Gene: ISCA2

Comment 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

Green List (high evidence)

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

• 29359243

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

Red List (low evidence)

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

• 27564080
• 25558065
• 25539947
• 22323289