Rare genetic inflammatory skin 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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1
Created: 24 Mar 2021, 2:13 p.m. | Last Modified: 24 Mar 2021, 2:13 p.m.
Panel Version: 1.36

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal



Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TREX1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:02 p.m.

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes CHBL1; AICARDI-GOUTIERES SYNDROME 1; AGS1, CHILBLAIN LUPUS 1 for gene: TREX1 Publications for gene TREX1 were changed from to 16845398; 17660818

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TREX1.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TREX1 was added gene: TREX1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome; Chillblain lupus