Childhood onset dystonia, chorea or related movement disorder
Gene: TREX1

TREX1 (three prime repair exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213689
EnsemblGeneIds (GRCh37): ENSG00000213689
OMIM: 606609, Gene2Phenotype
TREX1 is in 21 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Reported in multiple families
Created: 12 Dec 2019, 3:42 p.m. | Last Modified: 12 Dec 2019, 3:42 p.m.

Panel Version: 0.258

Created: 12 Dec 2019, 3:42 p.m.
Last Modified: 12 Dec 2019, 3:42 p.m.
Panel version: 0.258

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

I don't know

Literature review in PMID 25582466 suggests 75% of patients with Aicardi-Goutieres Syndrome have dystonia. May be appropriate to include following clinical input.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

South West GLH
Expert Review Green
London North GLH

Phenotypes

Vasculopathy, retinal, with cerebral leukodystrophy, 192315
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750

OMIM

606609

Clinvar variants

Variants in TREX1

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TREX1. Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TREX1 was added gene: TREX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TREX1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: TREX1

3 reviews

Louise Daugherty (Genomics England Curator)

Created: 12 Dec 2019, 3:42 p.m. | Last Modified: 12 Dec 2019, 3:42 p.m.

Panel Version: 0.258