Likely inborn error of metabolism - targeted testing not possible
Gene: TREX1
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotypeCreated: 14 Oct 2019, 10:53 a.m. | Last Modified: 14 Oct 2019, 10:53 a.m.
Panel Version: 1.350
Promoted from Amber to Green. Associated with relevant phenotype in OMIM and Gen2Phen. At least 3 unrelated variants reported in literature.Created: 14 Oct 2019, 10:39 a.m. | Last Modified: 14 Oct 2019, 10:39 a.m.
Panel Version: 1.348
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Publications
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Intracerebral calcification disorders
Phenotypes for gene: TREX1 were changed from Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders
Gene: trex1 has been classified as Green List (High Evidence).
Publications for gene: TREX1 were set to 27604308; 12624136; 25604658
Publications for gene: TREX1 were set to 27604308; 12624136; 25604658
Publications for gene: TREX1 were set to 27604308
Source NHS GMS was added to TREX1. Source London North GLH was added to TREX1.
Sarah Leigh: Associated with phenotype in O
gene: TREX1 was added gene: TREX1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 27604308 Phenotypes for gene: TREX1 were set to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders