Likely inborn error of metabolism

Gene: ISCA2

Comment on phenotypes: infantile neurodegenerative mitochondrial disorder

Created: 5 Oct 2019, 3:11 p.m. | Last Modified: 5 Oct 2019, 3:11 p.m.

Panel Version: 1.338

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two different ethinicities.
Rated green based on review of Anna de Burca (Clinical Fellow, Genomic England).

Created: 1 Oct 2019, 4:25 p.m. | Last Modified: 1 Oct 2019, 4:25 p.m.

Panel Version: 1.336

Comment on phenotypes: infantile neurodegenerative mitochondrial disorder

Created: 1 Oct 2019, 4:21 p.m. | Last Modified: 1 Oct 2019, 4:21 p.m.

Panel Version: 1.335

Comment on list classification: Upgraded to green based on expert review with additional publication.

Created: 25 Feb 2019, 10:57 a.m.

Green List (high evidence)

Please note this additional publication in an Italian patient with two different variants in this gene.

Created: 30 Aug 2018, 5:41 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

Comment on list classification: All reports are for the same variant, in patients with Arab descent, therefore decided in the Analysis and Interpretation meeting to make this red for now as the finding has not been repeated with a seperated variant or in a seperate population.

Created: 25 Apr 2016, 12:20 p.m.

Comment on list classification: 6 patients (2 were siblings) affected with infantile-onset neurodegenerative manifestations with severe leukodystrophy were homozygous for the c.G229A mutation in ISCA2.

Created: 15 Feb 2016, 12:33 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal