Mitochondrial disorders
Gene: ISCA2Comment on list classification: Upgraded to green based on expert review with additional publication.Created: 25 Feb 2019, 10:57 a.m.
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
Publications for gene: ISCA2 were set to PMID: 25539947
Gene: isca2 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to ISCA2. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ISCA2 was created by [email protected]
ISCA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list