Possible mitochondrial disorder - nuclear genes
Gene: ISCA2
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: ISCA2 was added gene: ISCA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370