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Dystonia - complex

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 unrelated cases with dystonia as a feature of the condition, 6 biallelic and 1 de novo.
Sources: Expert list
Created: 6 Apr 2020, 7:59 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750

Publications

Created: 6 Apr 2020, 7:59 a.m.

Panel version: 0.52

History Filter Activity

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trex1 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trex1 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TREX1 was added gene: TREX1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 20131292 Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750 Review for gene: TREX1 was set to GREEN