Structural basal ganglia disorders

Gene: ISG15

Green List (high evidence)

ISG15 (ISG15 ubiquitin-like modifier)
EnsemblGeneIds (GRCh38): ENSG00000187608
EnsemblGeneIds (GRCh37): ENSG00000187608
OMIM: 147571, Gene2Phenotype
ISG15 is in 4 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.

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

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

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ISG15 were set to Immunodeficiency 38 616126

6 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ISG15 were set to 25307056; 22859821

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ISG15 was created by sleigh

7 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ISG15 was added to Structural basal ganglia disorderspanel. Sources: Other