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Mitochondrial disease

Gene: ISCA2

Green List (high evidence)

ISCA2 (iron-sulfur cluster assembly 2)
EnsemblGeneIds (GRCh38): ENSG00000165898
EnsemblGeneIds (GRCh37): ENSG00000165898
OMIM: 615317, Gene2Phenotype
ISCA2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord.
Created: 15 Sep 2020, 9:58 p.m. | Last Modified: 15 Sep 2020, 9:58 p.m.
Panel Version: 0.490

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
OMIM
615317
Clinvar variants
Variants in ISCA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ISCA2 were set to

15 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ISCA2 was added gene: ISCA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ISCA2 was set to Unknown