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  3. ISCA1
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Genetic Epilepsy

Gene: ISCA1

Green List (high evidence)
ISCA1 (iron-sulfur cluster assembly 1)
EnsemblGeneIds (GRCh38): ENSG00000135070
EnsemblGeneIds (GRCh37): ENSG00000135070
OMIM: 611006, Gene2Phenotype
ISCA1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Created: 17 Mar 2020, 11:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613

Publications

Created: 17 Mar 2020, 11:15 p.m.

Panel version: 0.634

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
OMIM
611006
Clinvar variants
Variants in ISCA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: isca1 has been classified as Green List (High Evidence).

17 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: isca1 has been classified as Green List (High Evidence).

17 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ISCA1 was added gene: ISCA1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Review for gene: ISCA1 was set to GREEN