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Regression

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.
Sources: Expert Review
Created: 15 Sep 2020, 10:01 p.m.

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
  • Expert Review
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

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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ISCA2 was added gene: ISCA2 was added to Regression. Sources: Expert Review Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243 Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Review for gene: ISCA2 was set to GREEN