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Research panel - Severe Paediatric Disorders

Gene: TREX1

Green List (high evidence)
TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TREX1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) | Chilblain lupus, 610448 (3) | Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TREX1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Chilblain lupus, 610448; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TREX1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TREX1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TREX1 was added gene: TREX1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TREX1 was set to