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Fetal anomalies

Gene: TREX1

Green List (high evidence)

TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 24 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe perinatal presentations of AGS, including caused by this gene, reported (e.g. presenting with cerebral haemorrhage).
Created: 15 Feb 2022, 7:04 a.m. | Last Modified: 15 Feb 2022, 7:04 a.m.
Panel Version: 0.3502

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750

Publications

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trex1 has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TREX1 were changed from AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TREX1 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TREX1 was added gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE