ASNS

asparagine synthetase (glutamine-hydrolyzing)
OMIM: 108370, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ASNS in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Asparagine synthetase deficiency, MIM#615574
Green ASNS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature 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
Green ASNS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Expert Review Green Genetic Health Queensland Phenotypes Asparagine synthetase deficiency, MIM#615574
Green ASNS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, 615574 (3)
Red ASNS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
Green ASNS in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Asparagine synthetase deficiency, MIM#615574
Green ASNS in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, 615574 (3)
Green ASNS in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258
Red ASNS in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
Green ASNS in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, 615574 (3)