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Genetic epilepsy syndromes

Gene: ASNS

No list

ASNS (asparagine synthetase (glutamine-hydrolyzing))
EnsemblGeneIds (GRCh38): ENSG00000070669
EnsemblGeneIds (GRCh37): ENSG00000070669
OMIM: 108370, Gene2Phenotype
ASNS is in 4 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Encephalopathy, including seizures is a feature of this metabolic condition.
Sources: Expert list
Created: 7 Jan 2020, 7:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asparagine synthetase deficiency, MIM# 615574

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Asparagine synthetase deficiency, MIM# 615574
OMIM
108370
Clinvar variants
Variants in ASNS
Penetrance
None
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ASNS was added gene: ASNS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, MIM# 615574 Review for gene: ASNS was set to GREEN