Childhood onset dystonia, chorea or related movement disorder
Gene: TCTEX1D2

TCTEX1D2 (Tctex1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000213123
EnsemblGeneIds (GRCh37): ENSG00000213123
OMIM: 617353, Gene2Phenotype
TCTEX1D2 is in 8 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for TCTEX1D2 is DYNLT2B
Created: 23 Feb 2021, 5:56 p.m. | Last Modified: 23 Feb 2021, 5:56 p.m.

Panel Version: 1.83

Created: 23 Feb 2021, 5:56 p.m.
Last Modified: 23 Feb 2021, 5:56 p.m.
Panel version: 1.83

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

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
London North GLH

Tags

new-gene-name

OMIM

617353

Clinvar variants

Variants in TCTEX1D2

Penetrance

None

Panels with this gene

History Filter Activity

23 Feb 2021, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: TCTEX1D2.

28 Jan 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TCTEX1D2 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: TCTEX1D2