Likely inborn error of metabolism - targeted testing not possible
Gene: ISCA2Comment on phenotypes: infantile neurodegenerative mitochondrial disorderCreated: 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 disorderCreated: 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.
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 has been classified as Green List (High Evidence).
Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4 616370 to Multiple mitochondrial dysfunctions syndrome 4 616370
Publications for gene: ISCA2 were set to 25539947; 29359243; 29122497
Gene: isca2 has been classified as Green List (High Evidence).
Phenotypes for gene: ISCA2 were changed from infantile neurodegenerative mitochondrial disorder to Multiple mitochondrial dysfunctions syndrome 4 616370
Publications for gene: ISCA2 were set to PMID: 25539947
Sarah Leigh: Associated with phenotype in O
gene: ISCA2 was added gene: ISCA2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to PMID: 25539947 Phenotypes for gene: ISCA2 were set to infantile neurodegenerative mitochondrial disorder