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Gene: ISCA1

Red List (low evidence)

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly 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. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

Most recent case report: PMID 32092383 (4th independent family)
Created: 8 Jan 2025, 5:04 a.m. | Last Modified: 8 Jan 2025, 5:11 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613

Publications

Details

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

History Filter Activity

16 Jan 2025, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: ISCA1.

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 32092383; 30113620; 30105122; 31016283; 28356563 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613