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  2. Childhood onset dystonia, chorea or related movement disorder
  3. TXNDC15
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Childhood onset dystonia, chorea or related movement disorder

Gene: TXNDC15

Red List (low evidence)
TXNDC15 (thioredoxin domain containing 15)
EnsemblGeneIds (GRCh38): ENSG00000113621
EnsemblGeneIds (GRCh37): ENSG00000113621
TXNDC15 is in 8 panels

1 review

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
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • Meckel-Gruber syndrome
  • MGS
Clinvar variants
Variants in TXNDC15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to TXNDC15. Mode of inheritance for gene TXNDC15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15 Publications for gene TXNDC15 were changed from to 27894351

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TXNDC15 was added gene: TXNDC15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TXNDC15 was set to