GLA

galactosidase alpha
OMIM: 300644, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Green GLA in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

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
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fabry disease, 301500
  • Fabry disease, cardiac variant, 301500
  • Fabry Disease

Red GLA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Green GLA in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23

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
Phenotypes
  • Fabry disease, 301500
  • Fabry disease, cardiac variant, 301500
  • Fabry Disease

Red GLA in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.8
Signed off v.2.2 on 2 Mar 2020

review Unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease

Green GLA in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.10

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
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Cerebral Small Vessel Disease
  • Stroke
  • Ischemic Stroke
  • haemorrhagic stroke
  • Fabry disease, Fabry disease, cardiac variant 301500

Green GLA in Lysosomal storage disorder


Version 1.3
Signed off v.1.2 on 18 Feb 2020

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Fabry disease 301500

Green GLA in White matter disorders - adult onset


Version 1.7
Signed off v.1.6 on 15 Oct 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Fabry disease, Fabry disease, cardiac variant, 301500

Green GLA in Progressive cardiac conduction disease


Version 1.6
Signed off v.1.5 on 20 Aug 2020

Component of the following Super Panels:

  • Sudden cardiac death
  • 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
    • NHS GMS
    Phenotypes
    • Fabry disease, cardiac variant, 301500

    Green GLA in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.16
    Signed off v.2.11 on 15 Oct 2020

    Component of the following Super Panels:

  • Sudden cardiac death
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Fabry disease (301500)
    • syndromic HCM
    • Fabry disease, cardiac variant (301500)

    Red GLA in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.67

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • South West GLH
    • Oxford Medical Genetics Laboratory

    Red GLA in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.23
    Signed off v.2.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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
    • Expert

    Green GLA in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    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 list
    Phenotypes
    • Fabry disease, 301500

    Red GLA in Paroxysmal central nervous system disorders


    Version 1.10
    Signed off v.1.2 on 27 Feb 2020

    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
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Fabry disease, 301500

    Green GLA in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • 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
    Phenotypes
    • renal insufficiency
    • renal failure
    • Fabry disease, 301500

    No list GLA in Multiple monogenic benign skin tumours


    Version 1.5
    Signed off v.1.3 on 15 Oct 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Fabry disease

    Green GLA in Unexplained paediatric onset end-stage renal disease


    Version 1.12
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • 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
    Phenotypes
    • Fabry disease, 301500
    • renal insufficiency
    • renal failure

    Green GLA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.440

    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 (Sphingolipidoses)
    • Fabry disease, 301500
    • Fabry disease, cardiac variant, 301500
    • Fabry Disease

    Green GLA in Inborn errors of metabolism


    Version 2.50
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fabry disease, cardiac variant, 301500
    • Fabry Disease
    • Fabry disease (Sphingolipidoses)
    • Fabry disease, 301500

    Green GLA in Fetal anomalies


    Version 1.179
    Signed off v.1.92 on 21 Aug 2020

    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
    • Other
    Phenotypes
    • Fabry disease, 301500

    Green GLA in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Amber GLA in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.44
    Signed off v.2.32 on 16 Oct 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 Amber
    • NHS GMS
    Phenotypes
    • Fabry disease 301500

    Green GLA in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    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
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • Other
    • Fabry disease
    • MIM 301500

    Amber GLA in Cardiomyopathies - including childhood onset


    Version 1.18
    Signed off v.1.4 on 19 Feb 2020

    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 Amber
    • NHS GMS
    • South West GLH
    • London South GLH
    • MetBioNet
    • MetBioNet
    • London South GLH
    • South West GLH
    Phenotypes
    • Fabry disease, 301500
    • HCM is a late complication in adults, also found in female carriers
    • Limb pain, angiokeratom
    • syndromic HCM
    • Fabry disease, cardiac variant, 301500
    • Fabry disease (Sphingolipidoses)
    • Fabry Disease
    • Fabry disease
    • HCM

    Amber GLA in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    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 Amber
    • NHS GMS
    • London North GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cardiomyopathy

    Red GLA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green GLA in Severe Paediatric Disorders


    Version 1.43

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fabry disease, cardiac variant, 301500
    • Fabry disease, 301500