Inherited white matter 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 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green, based on evidence provided by expert reviewer and also advice from the Genomics England Clinical team.
Created: 1 Jul 2019, 12:19 p.m. | Last Modified: 1 Jul 2019, 12:19 p.m.
Panel Version: 1.69

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note this recent report of an unrelated patient with compound heterozygous variants in this gene, in addition to the multiple patients reported with homozygous founder mutation, further strengthening the evidence for a disease association.
Created: 24 Jul 2018, 2:33 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)

Red List (low evidence)

There are 6 cases, however they were all reported to have the same one variant, and all patients are of Arabic decent, and so it may be a founder effect (PMID: 25539947), with the same variant reported in PMID: 25558065. PMID: 22323289 functional study "Taken together, our data suggest that ISCA1, ISCA2, and IBA57 are specifically involved in the maturation of mitochondrial [4Fe-4S] proteins functioning late in the iron-sulfur cluster (ISC) assembly pathway."
Created: 6 Oct 2016, 12:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

1 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

1 Jul 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

1 Jul 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ISCA2 were set to 27564080; 25558065; 25539947; 22323289

6 Oct 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ISCA2 was added to Inherited white matter disorderspanel. Sources: Literature

6 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ISCA2 was created by ellenmcdonagh