1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. ISG15
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: ISG15

Red List (low evidence)
ISG15 (ISG15 ubiquitin-like modifier)
EnsemblGeneIds (GRCh38): ENSG00000187608
EnsemblGeneIds (GRCh37): ENSG00000187608
OMIM: 147571, Gene2Phenotype
ISG15 is in 5 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
  • Immunodeficiency 38 616126
OMIM
147571
Clinvar variants
Variants in ISG15
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 ISG15. Mode of inheritance for gene ISG15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 38 616126 for gene: ISG15 Publications for gene ISG15 were changed from to 22859821; 25307056

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ISG15 was added gene: ISG15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ISG15 was set to