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Inborn errors of metabolism

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: infantile neurodegenerative mitochondrial disorder
Created: 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 disorder
Created: 1 Oct 2019, 4:21 p.m. | Last Modified: 1 Oct 2019, 4:21 p.m.
Panel Version: 1.335

Anna de Burca (Genomics England Curator)

Comment on list classification: Upgraded to green based on expert review with additional publication.
Created: 25 Feb 2019, 10:57 a.m.

Zornitza Stark (Australian Genomics)

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

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4 616370 to Multiple mitochondrial dysfunctions syndrome 4 616370

5 Oct 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ISCA2 were set to 25539947; 29359243; 29122497

1 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).

1 Oct 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ISCA2 were changed from infantile neurodegenerative mitochondrial disorder to Multiple mitochondrial dysfunctions syndrome 4 616370

1 Oct 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ISCA2 were set to PMID: 25539947

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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