Likely inborn error of metabolism

Gene: TREX1

Green List (high evidence)

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 phenotype

Created: 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

• 12624136
• 25604658

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