PanelApp
  1. Genes and Genomic Entities
  2. HEXA

HEXA

hexosaminidase subunit alpha
OMIM: 606869, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green HEXA in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800

    Red HEXA in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.36

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • GM2 Gangliosidosis
    • Tay-Sachs disease
    • Parkinsonism
    • OMIM 272800

    Red HEXA in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.325

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Tay-Sachs disease, MIM# 272800

    Green HEXA in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.150

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

    Green HEXA in Mendeliome


    Version 1.2656

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GM2-gangliosidosis, several forms 272800
    • Tay-Sachs disease 272800
    • MONDO:0010100

    Green HEXA in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.17

    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
    • GM2-gangliosidosis, several forms, MIM# 272800
    • Tay-Sachs disease, MIM# 272800
    • MONDO:0010100

    Green HEXA in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.157

    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
    Phenotypes
    • GM2-gangliosidosis, several forms 272800
    • Tay-Sachs disease 272800

    Green HEXA in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.581

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

    Green HEXA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Tay-Sachs disease MONDO:0010100

    Green HEXA in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.38

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • GM2-gangliosidosis, several forms, 272800
    • Tay-Sachs disease, 272800

    Green HEXA in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.321

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tay-Sachs disease, MIM# 272800

    Green HEXA in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.149

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800

    Green HEXA in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described
    • Tay-Sachs disease

    Green HEXA 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
    • Tay-Sachs disease, 272800 (3)

    Green HEXA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Red HEXA in Fetal anomalies


    Version 1.370

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Tay-Sachs disease - MIM#272800

    Green HEXA in Prepair 1000+


    Level 2: Screening
    Version 2.13

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Tay-Sachs disease, 272800 (3)

    Red HEXA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • GM2-gangliosidosis, several forms 272800
    • Tay-Sachs disease 272800

    Green HEXA in Prepair 500+


    Level 2: Screening
    Version 2.0

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Tay-Sachs disease, MIM#272800