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  3. ASNS
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004187

Well established gene-disease association. Individuals have been reported with an inborn error of asparagine synthetase metabolism.
Sources: ClinGen
Created: 23 May 2024, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258

Publications

Created: 23 May 2024, 1:54 a.m.

Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258
OMIM
108370
Clinvar variants
Variants in ASNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2024, 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).

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573

23 May 2024, 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).

23 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ASNS was added gene: ASNS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573 Phenotypes for gene: ASNS were set to congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Review for gene: ASNS was set to GREEN