PanelApp
  1. Genes and Genomic Entities
  2. GALC

GALC

galactosylceramidase
OMIM: 606890, ClinGen, DECIPHER

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green GALC in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews 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 1.407

    		1 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 0.328

    		1 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 0.161

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GALC in Mendeliome


    Version 1.4215

    		1 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 1.27

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 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 1.362

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.588

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GALC in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.602

    		0 reviews 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 1.638

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Krabbe disease MONDO:000949

    Green GALC in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green GALC in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.139

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Amber GALC in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.53

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.111

    		0 reviews 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 0.280

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

    Red GALC in Fetal anomalies


    Version 1.522

    		1 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 2.15

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

    Green GALC in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    		1 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 2.0

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