PanelApp
  1. Genes and Genomic Entities
  2. ASNS

ASNS

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green ASNS in Mendeliome


Version 1.3512

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 1.267

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 1.410

    		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 0.110

    		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 1.465

    		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 2.14

    		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 1.137

    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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Asparagine synthetase deficiency, MIM#615574