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Intellectual disability syndromic and non-syndromic

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

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association with Aicardi-Goutières Syndrome
Heterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability
TREX1-related Aicardi Goutières syndrome have higher impairment (PMID: 31559893)
ID common presenting feature (PMID: 25604658)
Created: 23 May 2024, 4:24 a.m. | Last Modified: 23 May 2024, 4:24 a.m.
Panel Version: 0.5881

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome MONDO:0018866

Publications

History Filter Activity

23 May 2024, 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).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome MONDO:0018866

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TREX1 were set to

23 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TREX1 was added gene: TREX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TREX1 was set to Unknown