PanelApp
  1. Genes and Genomic Entities
  2. GALC

GALC

galactosylceramidase
OMIM: 606890, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green GALC in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Krabbe disease, MIM# 245200

    Amber GALC in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Krabbe disease, MIM#245200

    Red GALC in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Krabbe disease, MIM# 245200

    Green GALC in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.149

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

    Green GALC in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Krabbe disease, MIM# 245200
    • MONDO:0009499

    Green GALC 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
    • Krabbe disease, MIM# 245200
    • MONDO:0009499

    Green GALC 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 Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Krabbe disease, MIM# 245200
    • MONDO:0009499

    Green GALC in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green GALC in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

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

    Green GALC 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
    • Krabbe disease MONDO:000949

    Green GALC in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Krabbe disease, MIM# 245200

    Green GALC 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Krabbe disease, 245200

    Green GALC in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Krabbe disease MIM#245200

    Amber GALC 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 Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Krabbe Disease MIM#245200

    Green GALC 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
    • Krabbe disease, 245200 (3)

    Green GALC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Krabbe disease

    Red GALC in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Krabbe disease, OMIM:245200

    Green GALC in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Krabbe disease, MIM# 245200
    • MONDO:0009499

    Green GALC in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Krabbe disease, MIM#245200
    Tags
    • treatable
    • metabolic

    Green GALC in Prepair 500+


    Level 2: Screening
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Krabbe disease, 245200 (3)