ASNS

asparagine synthetase (glutamine-hydrolyzing)
OMIM: 108370, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ASNS in Mendeliome Version 1.2302	1 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 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 1.63	1 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	0 reviews	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	0 reviews	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 1.313	1 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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, MIM#615574
Green ASNS in Aminoacidopathy Level 2: Metabolic disorders Version 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	1 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 1.116	0 reviews	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 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, 615574 (3)