Intracerebral calcification 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 23 panels

2 reviews

Yanick Crow (University of Manchester)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review. It is a green gene on the Familial cerebral small vessel disease gene panel (version 1.0), Inherited white matter disorders gene panel (version 1.0), and Intellectual disability gene panel (version 1.14). It is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE. More than 3 cases/families reported in OMIM for different variants.

Created: 29 Nov 2016, 11:25 a.m.
Mode of inheritance sourced from OMIM.
Created: 8 Jan 2016, 10:50 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Nov 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive; Aicardi-Goutières syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy

29 Nov 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TREX1 were set to 25604658

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

TREX1 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive

8 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

TREX1 was added to Intracerebral calcification disorderspanel. Sources: Other

8 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene TREX1 were set to Aicardi-Goutieres Syndrome

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TREX1 was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TREX1 was created by ellenmcdonagh