GLA

galactosidase alpha
OMIM: 300644, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green GLA in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fabry disease MONDO:0010526

    Green GLA in Vasculitis


    Level 2: Immunological disorders
    Version 0.86

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

    Amber GLA in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fabry disease, MIM# 301500

    Green GLA in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.0

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fabry disease (MIM# 301500)

    Red GLA in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fabry disease, MIM# 301500

    Green GLA in Incidentalome


    Version 0.314

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fabry disease 301500
    • Fabry disease, cardiac variant 301500
    Tags
    • cardiac

    Green GLA in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.229

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fabry disease, MIM# 301500

    Green GLA in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.13

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fabry disease, MIM# 301500
    • MONDO:0010526

    Green GLA in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

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

    Green GLA in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Fabry disease, MIM# 301500

    Green GLA in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.143

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Fabry disease, Fabry disease, cardiac variant, 301500

    Green GLA 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cardiomyopathy
    • HSAN/SFN
    • Fabry disease

    Green GLA in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.34

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Fabry disease, 301500

    Green GLA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fabry disease, 301500 (3)

    Green GLA in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Fabry disease, MIM# 301500, MONDO:0010526

    Amber GLA in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • Expert Review Amber
    • MetBioNet
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fabry disease, cardiac variant, 301500
    • Fabry disease (Sphingolipidoses)
    • Fabry disease, 301500
    • Fabry Disease
    • HCM
    • syndromic HCM
    • Limb pain, angiokeratom
    • Fabry disease
    • HCM is a late complication in adults, also found in female carriers

    Green GLA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Fabry disease

    Green GLA in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Red GLA in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Fabry disease, 301500

    Green GLA in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fabry disease, MIM#301500

    Green GLA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Fabry disease (MIM# 301500)
    Tags
    • treatable
    • metabolic

    Green GLA in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.18

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    Phenotypes
    • Fabry disease (MIM# 301500)

    Green GLA in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fabry disease (MIM# 301500)

    Green GLA in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fabry disease, MIM#301500