Mitochondrial disorders
Gene: ISCA2EnsemblGeneIds (GRCh38): ENSG00000165898
EnsemblGeneIds (GRCh37): ENSG00000165898
OMIM: 615317, Gene2Phenotype
ISCA2 is in 10 panels
4 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Phenotypes
-
- infantile neurodegenerative mitochondrial disorder
- Tags
- OMIM
- 615317
- Clinvar variants
- Variants in ISCA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Optic neuropathy
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ISCA2 were set to PMID: 25539947
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: isca2 has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to ISCA2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Shamima Rahman (UCL Institute of Child Health)ISCA2 was created by [email protected]
Added New Source
Shamima Rahman (UCL Institute of Child Health)ISCA2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list