PanelApp (test)
  1. Genes and Genomic Entities
  2. TREX1:Ensemblv115

TREX1:Ensemblv115

three prime repair exonuclease 1
OMIM: 606609, ClinGen, DECIPHER

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green TREX1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TREX1 in Vasculitis


Level 2: Immunological disorders
Version 1.0

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

Green TREX1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

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

Green TREX1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TREX1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 1.0

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

Green TREX1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TREX1 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

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

Green TREX1 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

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

Green TREX1 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TREX1 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TREX1 in Leukodystrophy - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
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 1.0

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

Green TREX1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Green TREX1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green TREX1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 2.0

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

Green TREX1 in Fetal anomalies


Version 2.0

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

Green TREX1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165

Amber TREX1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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

Green TREX1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165

Green TREX1 in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 1.0

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