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Undiagnosed metabolic disorders

Gene: ISCA2

Green List (high evidence)

ISCA2 (iron-sulfur cluster assembly 2)
EnsemblGeneIds (GRCh38): ENSG00000165898
EnsemblGeneIds (GRCh37): ENSG00000165898
OMIM: 615317, Gene2Phenotype
ISCA2 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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).
Sources: Literature
Created: 5 Oct 2019, 3:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 4 616370

Publications

History Filter Activity

5 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: isca2 has been classified as Green List (High Evidence).

5 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: ISCA2 was added gene: ISCA2 was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 25539947; 29359243 Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4 616370 Review for gene: ISCA2 was set to GREEN