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Prepair 500+

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

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in 12+ families. Onset at birth or in utero. Severe, can be fatal in infancy.
Created: 13 Aug 2024, 1:42 a.m. | Last Modified: 13 Aug 2024, 1:42 a.m.
Panel Version: 1.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asparagine synthetase deficiency, 615574

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Asparagine synthetase deficiency, MIM#615574
OMIM
108370
Clinvar variants
Variants in ASNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, 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).

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 (3) to Asparagine synthetase deficiency, MIM#615574

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASNS were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: ASNS was added gene: ASNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)