TREX1

three prime repair exonuclease 1
OMIM: 606609, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red TREX1 in Juvenile dermatomyositis

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.3

review Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome

Green TREX1 in COVID-19 research


Level 2: Viral research
Version 1.76

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Classical AGS, SLE, FCL

Red TREX1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.93

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green TREX1 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive 225750
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
    • Aicardi-Goutieres syndrome 1, dominant and recessive
    • Vasculopathy, retinal, with cerebral leukodystrophy 192315

    Green TREX1 in Familial cerebral small vessel disease

    Level 3: Arteriopathies
    Level 2: Cardiovascular disorders
    Version 1.10

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Literature
    Phenotypes
    • retinal vasculopathy with cerebral leukodystrophy
    • cerebroretinal vasculopathy
    • hereditary endotheliopathy, retinopathy, nephropathy and stroke
    • stroke, hereditary vascular retinopathy
    • retinopathy
    • nephropathy
    • Aicardi-Goutieres syndrome 1, dominant and recessive 225750 AR, AD
    • Vasculopathy, retinal, with cerebral leukodystrophy 192315 AD

    Green TREX1 in Rare genetic inflammatory skin disorders


    Version 1.38
    Latest signed off version: v1.6 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750
    • Chilblain lupus, OMIM:610448

    Green TREX1 in White matter disorders - adult onset


    Version 1.8
    Latest signed off version: v1.6 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750

    Green TREX1 in Primary immunodeficiency


    Version 2.402
    Latest signed off version: v2.1 (24 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
    • Type 1 interferonopathies
    • Classical AGS, SLE, FCL
    • Autoinflammatory Disorders

    Green TREX1 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Other
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive
    • Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy

    Green TREX1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive 225750
    • Vasculopathy, retinal, with cerebral leukodystrophy 192315
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Red TREX1 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Dystonia

    Green TREX1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.450

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
    • Familial cerebral small vessel disease
    • Inherited white matter disorders
    • Intellectual disability
    • Intracerebral calcification disorders

    Green TREX1 in Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Intellectual disability
    • Familial cerebral small vessel disease
    • Intracerebral calcification disorders
    • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1
    • Inherited white matter disorders

    Green TREX1 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE

    Green TREX1 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750

    Green TREX1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
    • seizures
    • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
    • {Systemic lupus erythematosus, susceptibility to}, 152700

    Green TREX1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700
    • AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE

    Amber TREX1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
    Tags
    • for-review

    Red TREX1 in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
    • Dystonia

    Green TREX1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750

    Green TREX1 in Test MOI validation panel - do not edit


    Version 1.0

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • OMIM test - MOI is Both Bi and mono, AD, AR in OMIM - agree

    Green TREX1 in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
    • Chilblain lupus, 610448
    • Vasculopathy, retinal, with cerebral leukodystrophy, 192315

    Green TREX1 in NewbornFullV1


    Version 0.1

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green