Structural basal ganglia disorders
Gene: ISG15

ISG15 (ISG15 ubiquitin-like modifier)
EnsemblGeneIds (GRCh38): ENSG00000187608
EnsemblGeneIds (GRCh37): ENSG00000187608
OMIM: 147571, Gene2Phenotype
ISG15 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 3 variants reported as homozygotes in 3 unrelated cases
Created: 6 Mar 2017, 11 a.m.

Comment on phenotypes: Idiopathic basal ganglia calcification (IBGC) identified with computed tomography (CT) scanning in patients with ISG15 variants
Created: 6 Mar 2017, 11 a.m.

Created: 6 Mar 2017, 11 a.m.

Panel version: 0.109

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

? very few reported cases?
Created: 1 Mar 2017, 3:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 3:15 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Immunodeficiency 38 616126

OMIM

147571

Clinvar variants

Variants in ISG15

Penetrance

Complete

Publications

Panels with this gene