Intracerebral calcification disorders
Gene: TREX1
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
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
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
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
Publications for TREX1 were set to 25604658
This gene has been classified as Green List (High Evidence).
TREX1 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive
TREX1 was added to Intracerebral calcification disorderspanel. Sources: Other
Model 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
TREX1 was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing
TREX1 was created by ellenmcdonagh