TREX1

three prime repair exonuclease 1
OMIM: 606609, Gene2Phenotype

21 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Red TREX1 in Juvenile dermatomyositis Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.4	review	Not set	Sources Expert list Phenotypes Aicardi Goutieres Syndrome
Green TREX1 in COVID-19 research Level 2: Viral research Version 1.146	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 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green TREX1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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 1.18	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 Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	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 Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	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 or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 1.36	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Other UKGTN Eligibility statement prior genetic testing 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 1.186	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
Green TREX1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750 Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Green TREX1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	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 Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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
Green TREX1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS RetNet Phenotypes Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Red TREX1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	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
Amber TREX1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750 Aicardi-Goutieres syndrome 1, MONDO:0009165 cardiomyopathy, MONDO:0004994 Tags watchlist
Green TREX1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	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

TREX1

21 panels

Red TREX1 in Juvenile dermatomyositis

Sources

Phenotypes

Green TREX1 in COVID-19 research

Sources

Phenotypes

Red TREX1 in Early onset dystonia

Sources

Phenotypes

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

Sources

Phenotypes

Green TREX1 in Familial cerebral small vessel disease

Sources

Phenotypes

Green TREX1 in Rare genetic inflammatory skin disorders

Sources

Phenotypes

Green TREX1 in Adult onset leukodystrophy

Sources

Phenotypes

Green TREX1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Green TREX1 in Intracerebral calcification disorders

Sources

Phenotypes

Green TREX1 in Inherited white matter disorders

Sources

Phenotypes

Green TREX1 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green TREX1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green TREX1 in Likely inborn error of metabolism

Sources

Phenotypes

Green TREX1 in Fetal anomalies

Sources

Phenotypes

Green TREX1 in DDG2P

Sources

Phenotypes

Green TREX1 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green TREX1 in Intellectual disability

Sources

Phenotypes

Green TREX1 in Retinal disorders

Sources

Phenotypes

Red TREX1 in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Amber TREX1 in Paediatric or syndromic cardiomyopathy

Sources

Phenotypes

Tags

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

Sources

Phenotypes