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Intellectual disability

Gene: ISCA2

Amber List (moderate evidence)

ISCA2 (iron-sulfur cluster assembly 2)
EnsemblGeneIds (GRCh38): ENSG00000165898
EnsemblGeneIds (GRCh37): ENSG00000165898
OMIM: 615317, Gene2Phenotype
ISCA2 is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: After consulting with the Genomics England Clinical team it was decided to only promote this gene to amber as the clinical picture is more of a mitochondrial phenotype and is likely to be investigated that way.
Created: 1 Jul 2019, 12:18 p.m. | Last Modified: 1 Jul 2019, 12:18 p.m.
Panel Version: 2.927

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals from unrelated families with bi-allelic variants in this gene reported in the literature. Although the phenotype is one of neurodegeneration/regression, the onset of symptoms is very early, so could conceivably be confused with 'ID'.
Created: 22 Jun 2018, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 4

Publications

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

History Filter Activity

1 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: isca2 has been classified as Amber List (Moderate Evidence).

27 Jun 2019, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag founder-effect tag was added to gene: ISCA2.

26 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ISCA2 were set to 25539947; 29297947; 29359243; 29122497; 28356563

26 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ISCA2 were set to 25539947, 29297947, 29359243

26 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ISCA2.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ISCA2 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ISCA2 was created by Zornitza Stark