PanelApp (stage)
  1. Genes and Genomic Entities
  2. TREX1

TREX1

three prime repair exonuclease 1
OMIM: 606609, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green TREX1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641

    Green TREX1 in Vasculitis


    Level 2: Immunological disorders
    Version 0.82

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

    Green TREX1 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750

    Green TREX1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM #225750

    Green TREX1 in Mendeliome


    Version 1.1891

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive
    • Chilblain lupus
    • {Systemic lupus erythematosus, susceptibility to}
    • Vasculopathy, retinal, with cerebral leukodystrophy

    Green TREX1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive
    • Chilblain lupus
    • {Systemic lupus erythematosus, susceptibility to}
    • Vasculopathy, retinal, with cerebral leukodystrophy

    Green TREX1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green TREX1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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

    Green TREX1 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 0.186

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TREX1 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Systemic lupus erythematosus, susceptibility to} 152700
    • Aicardi-Goutieres syndrome 1, dominant and recessive 225750

    Green TREX1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Aicardi-Goutieres syndrome MONDO:0018866

    Green TREX1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750

    Green TREX1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750

    Green TREX1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
    • Vasculopathy, retinal, with cerebral leukodystrophy, 192315

    Green TREX1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315

    Green TREX1 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
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)

    Green TREX1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315

    Green TREX1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 1

    Green TREX1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
    • Disorder of nucleotide metabolism

    Green TREX1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750

    Green TREX1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)

    Amber TREX1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Aicardi-Goutieres syndrome 1 MIM#225750
    Tags
    • for review
    • treatable
    • neurological

    Green TREX1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)

    Green TREX1 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorder of nucleotide metabolism
    • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750