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  3. ASNS
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Genetic Epilepsy

Gene: ASNS

Green List (high evidence)
ASNS (asparagine synthetase (glutamine-hydrolyzing))
EnsemblGeneIds (GRCh38): ENSG00000070669
EnsemblGeneIds (GRCh37): ENSG00000070669
OMIM: 108370, Gene2Phenotype
ASNS is in 10 panels

2 reviews

Elizabeth Palmer (University of New South Wales)

Green List (high evidence)

Drug resistant seizures are common (12/17 reported cases) in Asparagine Synthetase deficiency. Reported variants are missense variants (homozygous or compound heterozygous) in the highly conserved asparagine synthetase domain and result in reduced enzymatic activity.
Sources: Literature
Created: 19 Dec 2019, 3:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination

Publications

Mode of pathogenicity
Other

Created: 19 Dec 2019, 3:59 a.m.

Panel version: 0.46

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive neurometabolic disorder, with high mortality in infancy but severe intellectual disability in those surviving longer.
Sources: Expert list
Created: 23 Nov 2019, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asparagine synthetase deficiency, MIM#615574

Publications

Created: 23 Nov 2019, 8:28 a.m.

Panel version: Imported from Mendeliome panel version 0.9628

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Asparagine synthetase deficiency, MIM#615574
  • microcephaly
  • cerebral atrophy
  • drug-resistant epilepsy
  • axial hypotonia
  • progressive appendicular spasticity
  • abnormal myelination
OMIM
108370
Clinvar variants
Variants in ASNS
Penetrance
Complete
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASNS were changed from microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination to Asparagine synthetase deficiency, MIM#615574; microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination

19 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)

19 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2019, Gel status: 0

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

Elizabeth Palmer (University of New South Wales)

gene: ASNS was added gene: ASNS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253) Phenotypes for gene: ASNS were set to microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination Penetrance for gene: ASNS were set to Complete Mode of pathogenicity for gene: ASNS was set to Other Review for gene: ASNS was set to GREEN