Mitochondrial DNA maintenance disorder

Gene: ISCA2

Red List (low evidence)

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. Gene Symbol submitted: ISCA2; Suggested intial gene rating: Red; Information provided: Mode of inheritance, phenotype and publication.

Created: 1 Feb 2019, 4:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 4, 616370

Publications

• 29297947, 25539947

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 when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as the molecular mechanism of variants in this gene being involved in maintenance has not been confirmed.

Created: 25 Feb 2019, 4:30 p.m.

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