NAGA

alpha-N-acetylgalactosaminidase
OMIM: 104170, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green NAGA in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NAGA in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kanzaki disease, MIM# 609242
  • Schindler disease, type I and type II 609241
  • alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

Green NAGA in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.13

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Kanzaki disease, MIM# 609242
    • Schindler disease, type I and type II 609241
    • alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

    Amber NAGA in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Schindler disease, type I and type II 609241

    Green NAGA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Kanzaki disease, MIM# 609242
    • Schindler disease, type I and type II 609241
    • alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

    Green NAGA in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Kanzaki disease, MIM#609242

    Green NAGA 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
    • Schindler disease, type I, 609241 (3)

    Green NAGA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • N-acetylgalactosaminidase alpha deficiency

    Amber NAGA in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Kanzaki disease (MIM# 609242)
    • Schindler disease, type I and type II (MIM#609241)
    • alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779)

    Green NAGA in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Schindler disease, type I, 609241 (3)

    Red NAGA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Kanzaki disease, MIM# 609242

    Green NAGA in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Schindler disease, type I, 609241 (3)