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Additional findings_Paediatric

Gene: ASNS

Red List (low evidence)

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
OMIM
108370
Clinvar variants
Variants in ASNS
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASNS was added gene: ASNS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures