Dystonia - childhood onset

Gene: ISG15

Green List (high evidence)

ISG15 (ISG15 ubiquitin-like modifier)
EnsemblGeneIds (GRCh38): ENSG00000187608
EnsemblGeneIds (GRCh37): ENSG00000187608
OMIM: 147571, Gene2Phenotype
ISG15 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 38 616126
OMIM
147571
Clinvar variants
Variants in ISG15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ISG15 was added gene: ISG15 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISG15 were set to 25307056; 22859821 Phenotypes for gene: ISG15 were set to Immunodeficiency 38 616126