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Intellectual disability syndromic and non-syndromic

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)

16 Arab families reported with founder variant, G77S. One Italian and one Iranian patient reported with different variants. Symptom onset between 2-7 months, biochemical findings inconsistent.
Created: 8 Feb 2020, 7:30 a.m. | Last Modified: 8 Feb 2020, 7:30 a.m.
Panel Version: 0.2047

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 4 616370

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

8 Feb 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).

8 Feb 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

8 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ISCA2 were set to

8 Feb 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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ISCA2 was set to Unknown